Priya Sunil Kishnani
Chen Family Distinguished Professor of Pediatrics
RESEARCH INTERESTS
A multidisciplinary approach to care of individuals with genetic disorders in conjunction with clinical and bench research that contributes to:
1) An understanding of the natural history and delineation of long term complications of genetic disorders with a special focus on liver Glycogen storage disorders, lysosomal disorders with a special focus on Pompe disease, Down syndrome and hypophosphatasia
2) ) The development of new therapies such as AAV gene therapy, enzyme therapy, small molecule and other approaches for genetic disorders through translational research
3) The development and execution of large multicenter trials to confirm safety and efficacy of potential therapies
4) Role of antibodies/immune response in patients on therapeutic proteins and AAV gene therapy
. Glycogen Storage Disease (GSD): We are actively following subjects with all types of Glycogen Storage Disease, with particular emphasis on types I, II, III, IV, VI and IX. The goal of the treatment team is to better determine the clinical phenotype and long term complications of these diseases. Attention to disease manifestations observed in adulthood, such as adenomas and risk for HCC, is of paramount importance in monitoring and treating these chronic illnesses. We are establishing clinical algorithms for managing adenomas, and the overall management of these patients including cardiac, bone, muscle and liver issues. A special focus is biomarker discovery, an Omics approach including metabolomics and immune phenotyping. We are working on AAV gene therapy for several hepatic GSDs
.Lysosomal Storage Disease: The Duke Lysosomal Storage Disease (LSD) treatment center follows and treats patients with Pompe, Gaucher, Fabry, Mucopolysaccharidosis, Niemann Pick, LAL-D and other LSD's. The Duke Metabolism Clinical Research Team is exploring many aspects of enzyme replacement therapy (ERT), including impact on different systems, differential response, and long term effects. Other symptomatic and treatment interventions for this category of diseases are also being explored in the context of clinical care.
. Pompe Disease: The care team has extensive experience in the care of infants and adults with Pompe disease and was instrumental in conducting clinical trials and the bench to bedside work that led to the 2006 FDA approval of alglucosidase alfa, the first treatment for this devastating disease. We are currently focusing on role of antibodies/immune response on patient outcome and role of immune modulation/immune suppression as an adjunct to ERT. Our team is also working on AAV gene therapy for Pompe disease. A focus is on newborn screening (NBS) and understanding the clinical phenotype and management approaches for babies identified via NBS
. Hypophosphatasia: We follow a large cohort of patients with HPP. The goal is to understand the features of the disease beyond bone disease, development of biomarkers, role of ERT and immune responses in HPP
. Neuromuscular disorders: We are collaborating with neurologists, cardiologists and neuromuscular physicians to serve as a treatment site for clinical trials in these diseases. We are currently involved in trials of DMD and are working closely on setting up collaborations for studies in SMA.
A multidisciplinary approach to care of individuals with genetic disorders in conjunction with clinical and bench research that contributes to:
1) An understanding of the natural history and delineation of long term complications of genetic disorders with a special focus on liver Glycogen storage disorders, lysosomal disorders with a special focus on Pompe disease, Down syndrome and hypophosphatasia
2) ) The development of new therapies such as AAV gene therapy, enzyme therapy, small molecule and other approaches for genetic disorders through translational research
3) The development and execution of large multicenter trials to confirm safety and efficacy of potential therapies
4) Role of antibodies/immune response in patients on therapeutic proteins and AAV gene therapy
. Glycogen Storage Disease (GSD): We are actively following subjects with all types of Glycogen Storage Disease, with particular emphasis on types I, II, III, IV, VI and IX. The goal of the treatment team is to better determine the clinical phenotype and long term complications of these diseases. Attention to disease manifestations observed in adulthood, such as adenomas and risk for HCC, is of paramount importance in monitoring and treating these chronic illnesses. We are establishing clinical algorithms for managing adenomas, and the overall management of these patients including cardiac, bone, muscle and liver issues. A special focus is biomarker discovery, an Omics approach including metabolomics and immune phenotyping. We are working on AAV gene therapy for several hepatic GSDs
.Lysosomal Storage Disease: The Duke Lysosomal Storage Disease (LSD) treatment center follows and treats patients with Pompe, Gaucher, Fabry, Mucopolysaccharidosis, Niemann Pick, LAL-D and other LSD's. The Duke Metabolism Clinical Research Team is exploring many aspects of enzyme replacement therapy (ERT), including impact on different systems, differential response, and long term effects. Other symptomatic and treatment interventions for this category of diseases are also being explored in the context of clinical care.
. Pompe Disease: The care team has extensive experience in the care of infants and adults with Pompe disease and was instrumental in conducting clinical trials and the bench to bedside work that led to the 2006 FDA approval of alglucosidase alfa, the first treatment for this devastating disease. We are currently focusing on role of antibodies/immune response on patient outcome and role of immune modulation/immune suppression as an adjunct to ERT. Our team is also working on AAV gene therapy for Pompe disease. A focus is on newborn screening (NBS) and understanding the clinical phenotype and management approaches for babies identified via NBS
. Hypophosphatasia: We follow a large cohort of patients with HPP. The goal is to understand the features of the disease beyond bone disease, development of biomarkers, role of ERT and immune responses in HPP
. Neuromuscular disorders: We are collaborating with neurologists, cardiologists and neuromuscular physicians to serve as a treatment site for clinical trials in these diseases. We are currently involved in trials of DMD and are working closely on setting up collaborations for studies in SMA.
Current Appointments & Affiliations
- Chen Family Distinguished Professor of Pediatrics, Pediatrics, Medical Genetics, Pediatrics 2011
- Professor of Pediatrics, Pediatrics, Medical Genetics, Pediatrics 2007
- Chief, Division of Medical Genetics, Pediatrics, Medical Genetics, Pediatrics 2005
- Professor in the Department of Molecular Genetics and Microbiology, Molecular Genetics and Microbiology, Basic Science Departments 2018
- Member in the Duke Clinical Research Institute, Duke Clinical Research Institute, Institutes and Centers 2005
- Core Faculty in Innovation & Entrepreneurship, Duke Innovation & Entrepreneurship, Initiatives 2018
Contact Information
- 905 Lasalle Street, GSRB1, 4th Floor, Room 4010, Durham, NC 27710
- Box 103856, DUMC, Durham, NC 27710
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kishn001@mc.duke.edu
(919) 681-9854
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Department of Pediatrics
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Down syndrome- information
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Duke Health- Duke Children's
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Pompe disease- information
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YT and Alice Pediatrics Genetics and Genomics Center
- Background
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Education, Training, & Certifications
- M.B.B.S., University of Bombay, St. Xavier College (India) 1985
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Previous Appointments & Affiliations
- Associate Professor of Pediatrics, Pediatrics, Medical Genetics, Pediatrics 2005 - 2007
- Associate Professor of Pediatrics, Pediatrics, Medical Genetics, Pediatrics 2002 - 2005
- Assistant Professor of Pediatrics, Pediatrics, Medical Genetics, Pediatrics 1997 - 2002
- Associate in the Department of Pediatrics, Pediatrics, Medical Genetics, Pediatrics 1995 - 1997
- Recognition
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In the News
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NOV 16, 2022 School of Medicine -
NOV 10, 2022 Duke Health News -
OCT 10, 2022 School of Medicine Magnify -
NOV 23, 2020 -
MAR 30, 2018 Duke Health News -
JAN 26, 2017 Duke Health News -
JUL 26, 2016 Duke Today -
JUL 26, 2016 -
JAN 28, 2014 The Wall Street Journal -
JAN 28, 2014 The Wall Street Journal -
NOV 21, 2013 The Wall Street Journal -
AUG 19, 2013 Durham Herald-Sun -
AUG 19, 2013 Durham Herald-Sun -
AUG 16, 2013 WNCN -
AUG 15, 2013 WRAL
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- Expertise
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Global Scholarship
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Research
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- Research
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Selected Grants
- An Open-label, Multinational, Multicenter, Intravenous Infusion Study of the Efficacy, Saftey, Pharmacokinetics, and Pharmacodynamics of Avalglucosidase Alfa in Treatment-naive Pediatric Participants with Infantile-Onset Pompe Disease (IOPD) awarded by Sanofi US 2022 - 2028
- Medical Scientist Training Program awarded by National Institutes of Health 2022 - 2027
- Gene therapy for glycogen storage disease type III awarded by National Institutes of Health 2022 - 2027
- Defining the clinical characteristics for clinical trial endpoints of GSD VI and IX awarded by Kriya Therapeutics 2022 - 2025
- CHARACTERIZATION OF GSD IX ¿2 and GSD VI MOUSE MODELS awarded by Kriya Therapeutics 2022 - 2025
- Down Syndrome Clinical Trials Network awarded by Lumind RDS Foundation 2018 - 2025
- Clinical Pharmacokinetics and Safety Trials in Down Syndrome awarded by Eunice Kennedy Shriver National Institute of Child Health and Human Development 2019 - 2025
- GSD Ib Natural History Study awarded by Sophie's Hope Foundation 2023 - 2025
- Understanding cognitive and neurological pathologies in infantile Pompe disease CNS awarded by Genzyme Corporation 2022 - 2024
- Factors in Immune Response Affecting Long-term Treatment Outcomes in Pompe disease (CRIM) awarded by Genzyme Corporation 2022 - 2024
- A PHASE 3 OPEN-LABEL EXTENSION STUDY TO ASSESS THE LONG-TERM SAFETY AND EFFICACY OF INTRAVENOUS ATB200 CO-ADMINISTERED WITH ORAL AT2221 IN ADULT SUBJECTS WITH LATE-ONSET POMPE DISEASE awarded by Amicus Therapeutics Corporation 2020 - 2024
- Liver-directed AAV gene therapy for PHKG2-Glycogen Storage Disease IX (GSD IX y2) awarded by National Institutes of Health 2021 - 2024
- Residency/Fellowship Training in Medical Genetics awarded by Genzyme Corporation 2022 - 2024
- Residency in Medical Genetics at Duke University awarded by Genzyme Corporation 2021 - 2024
- Targeted Therapy for Pompe Disease awarded by National Institutes of Health 2019 - 2024
- Evaluation of children with the "late-onset" Pompe disease GAA variants identified by newborn screening: Guidance for in person or virtual monitoring awarded by Genzyme Corporation 2021 - 2024
- A PHASE 3 DOUBLE-BLIND RANDOMIZED STUDY TO ASSESS THE EFFICACY AND SAFETY OF INTRAVENOUS ATB200 CO-ADMINISTERED WITH ORAL AT2221 IN ADULT SUBJECTS WITH LATE-ONSET POMPE DISEASE COMPARED WITH ALGLUCOSIDASE ALFA awarded by Amicus Therapeutics Corporation 2019 - 2024
- Biomarker studies in plasma from patients with Gaucher disease awarded by Shire Human Genetics Therapies 2018 - 2024
- A Prospective observational study to describe outcomes of alglucosidase alfa treatment in patients <6 months of age with infantile-onset Pompe disease (IOPD) awarded by Sanofi US 2022 - 2024
- Amicus ATB200+-04 awarded by Amicus Therapeutics Corporation 2019 - 2023
- Transfer of livers from WT mice in Study 1: MED Investigation awarded by Kriya Therapeutics 2023
- Transfer of H&E stained liver slides from Phkg2-/- mice treated with AAV-mPhkg2 to Experimental Pathology Laboratories, Inc. awarded by Kriya Therapeutics 2022 - 2023
- Sanofi NeoGAA awarded by Genzyme Corporation 2013 - 2023
- The Duke FUNCTION Center: Pioneering the comprehensive identification of combinatorial noncoding causes of disease awarded by National Institutes of Health 2020 - 2023
- LSD Registry awarded by Genzyme Corporation 2019 - 2023
- A Phase 3, Randomized, Multicenter, Multinational, Double-Blinded Study Comparing the Efficacy and Safety of Repeated Bi-Weekly Infusions ff neoGAA (GZ402666) and Alglucosidase Alfa in Treatment Naive Patients With Late Onset Pompe Disease" awarded by Genzyme Corporation 2016 - 2023
- Immunophenotyping of patients with MPS II treated with enzyme replacement therapy awarded by Takeda Pharmaceuticals U.S.A., Inc 2022 - 2023
- Postdoctoral Training in Genomic Medicine Research awarded by National Institutes of Health 2017 - 2023
- An Open-label, Ascending-Dose, First-in-Human Study to Assess the Safety, Tolerability, and Pharmacokinetics of Intravenous Infusions of ATB200 Alone and ATB200 Co-administered with Oral AT2221 in Adu awarded by Amicus Therapeutics Corporation 2018 - 2023
- Duke CTSA (TL1) Year 5 awarded by National Institutes of Health 2018 - 2023
- AAV-mPhkg2 Gene Therapy for the treatment of GSD IXy2 awarded by Kriya Therapeutics 2022 - 2023
- AAV Gene Therapy for the Treatment of GSD VI and IX a2: Determination of Efficacy between Duke Plasmids and Kriya Plasmids for restoring PYGL and PHKA2 (the "Project") Addendum #8 awarded by Kriya Therapeutics 2022 - 2023
- An observational, longitudinal prospective, long-term registry of patients with hypophosphatasia awarded by Alexion Pharmaceuticals, Inc. 2015 - 2023
- Untargeted transcriptomics of Phkg2-/- liver and plasma (the "Project") awarded by Kriya Therapeutics 2022
- AAV Gene Therapy for the Treatment of GSD IX y2: Determination of Titer of Duke AAVs using Kriya Titering Methodologies awarded by Kriya Therapeutics 2022
- AAV Gene Therapy for the Treatment of GSD IX y2: Determination of Efficacy between Duke Plasmids and Kriya Plasmids for restoring PHKG2 awarded by Kriya Therapeutics 2022
- An open-label ascending dose cohort study to assess the safety, pharmacokinetics, and preliminary efficacy of neoGAA (GZ402666) in patients with infantile-onset Pompe disease treated with alglucosidase alfa who demonstrate clinical decline awarded by Sanofi US 2018 - 2022
- Medical Scientist Training Program awarded by National Institutes of Health 1997 - 2022
- Identifying Pathogenic Non-Coding Mutations in Rare Mendelian Disease awarded by National Institutes of Health 2019 - 2022
- Immunophenotyping of infantile Pompe disease awarded by Genzyme Corporation 2019 - 2022
- Developing a management approach for patients with the "late-onset" Pompe disease GAA variant identified by newborn screening awarded by Amicus Therapeutics Corporation 2018 - 2022
- Optimized GAA (GAA) as potentially improved therapeutic for the treatment of Pompe disease awarded by Codexis, Inc. 2020 - 2022
- Gene therapy by Lipid Nanoparticle-Mediated Delivery of Agl Messenger RNA in GSD III dogs awarded by Ultragenyx Pharmaceutical 2017 - 2022
- An Open-label, Multicenter, Single-arm, Phase 4 Study of the Effect of Treatment with Velaglucerase alfa on Bone-related Pathology in Treatment-naive Patients with Type 1 Gaucher Disease awarded by Shire Human Genetics Therapies 2016 - 2022
- Serologic and genomic modifiers of beta-amyloid levels in an immuno-compromised cohort of adult Down syndrome patients awarded by Infectious Diseases Society of America 2021 - 2022
- Factors in Immune Response Affecting Long-term Treatment Outcomes in Pompe disease (CRIM) awarded by Genzyme Corporation 2019 - 2021
- Understanding cognitive and neurological pathologies in infantile Pompe disease CNS awarded by Genzyme Corporation 2019 - 2021
- eLLiPSIS¿A Longitudinal, Observational Study to Examine the Measurement Characteristics of the Pompe Disease Symptom Scale and the Pompe Disease Impact Scale awarded by Sanofi US 2019 - 2021
- A Prospective Safety Sub-Registsry to Assess Anaphylaxis and Severe Allegric Reactions and Severe Cutaneious and Systemic Immune-mediated Reactions with Alglucosidase Alfa Treatment awarded by Genzyme Corporation 2016 - 2021
- Long Term Follow-up and Treatment Outcomes for Individuals with Pompe Disease awarded by University of Minnesota 2019 - 2021
- GSD III Clinical Data Manuscript Preparation awarded by Ultragenyx Pharmaceutical 2019 - 2021
- Morquio A Registry Study awarded by BioMarin Pharmaceutical, Inc. 2017 - 2021
- A study of patient -reported health masures in adult patients with Pompe disease awarded by Amicus Therapeutics Corporation 2017 - 2020
- Pompe Developmental IPAD Study awarded by Genzyme Corporation 2015 - 2020
- Feasibility of using Bortezomib-based immunosuppressive approach to deplete anti-AAV antibodies in mice awarded by Asklepios BioPharmaceutical, Inc. 2018 - 2020
- A longitudinal retrospective chart review of adults with HPP treated with asfotase alfa awarded by Alexion Pharmaceuticals, Inc. 2017 - 2020
- A Phase I Study of the Safety of AAV2/8 LSPhGAA in Late-onset Pompe Disease awarded by National Institutes of Health 2017 - 2020
- GAA-iTEM: Personalizing the Prediction of Anti-therapeutic Antibody Response in Pome Disease Patients awarded by EpiVax, Inc. 2018 - 2020
- A Three-month, Randomized, Parallel Active Control, Single and Repeat Dose, Dose-escalation Study of the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Preliminary Efficacy of VAL-1221 Delivered Intravenously (IV) in Ambulatory and Vent awarded by Valerion Therapeutics, Inc 2017 - 2020
- LDN: CRIM responses in Pompe disease awarded by University of Minnesota 2009 - 2019
- Respiratory Muscle Training in Individuals With Pompe Disease awarded by National Institutes of Health 2016 - 2019
- GSD IV Database Study awarded by Roivant Sciences, Inc. 2015 - 2019
- Novel Approaches for Correcting Respiratory Insufficiency in Pompe Disease awarded by National Institutes of Health 2014 - 2019
- A Prospective Non-interventional Study in Subjects with Late-onset Pompe Disease who are Currently Being Treated with Enzyme Replacement Therapy awarded by Amicus Therapeutics Corporation 2018 - 2019
- Factors in Immune Response Affecting Long-term Treatment Outcomes in Pompe disease awarded by Genzyme Corporation 2016 - 2018
- Understanding cognitive and neurological pathologies in infantile Pompe disease awarded by Genzyme Corporation 2016 - 2018
- A Retrospective Characterization of Response to Enzyme Replacement Therapy in Late-onset Pompe Disease awarded by Amicus Therapeutics Corporation 2017 - 2018
- Preclinical study of use of SVP-Rapamycin to induce immune tolerance to ERT in Pompe disease mice awarded by Selecta Biosciences, Inc. 2017 - 2018
- Evaluation of the use of Myozyme for treatment of glycogen storage disease type III and IV in murine disease models awarded by Roivant Sciences, Inc. 2015 - 2018
- Duke Research Training Program for Pediatricians awarded by National Institutes of Health 2002 - 2018
- Liver-specific knockdown of M6PR with RNAi therapeutics to increase enzyme delivery to muscle tissues of Pompe disease mice during ERT awarded by Alnylam Pharmaceuticals 2018
- Alexion Adult HPP PK Study awarded by Alexion Pharmaceuticals, Inc. 2016 - 2018
- Role of Whole Body MRI as a Non-Invasive Technique for Characterizing Disease and Treatment Efficacy in Infantile Onset Pompe disease awarded by Genzyme Corporation 2016 - 2017
- AN OPEN-LABEL, ASCENDING-DOSE, FIRST-INHUMAN STUDY TO ASSESS THE SAFETY, TOLERABILITY, AND PHARMACOKINETICS OF INTRAVENOUS INFUSIONS OF ATB200 ALONE AND ATB200 CO-ADMINISTERED WITH ORAL AT2221 IN ADULT SUBJECTS WITH POMPE DISEASE awarded by Amicus Therapeutics Corporation 2016 - 2017
- Identification of candidate genes for Pompe disease phenotype modifier genes awarded by University of Minnesota 2014 - 2017
- In vivo efficacy studies of Fab-GAA treatment for GSDII, III, and IV in murine disease models awarded by Valerion Therapeutics, Inc 2015 - 2017
- A Multicenter, longitudinal, non-drug study to assess the suitability of neurocognitive tests and functioning scales for the measurement of cognitive and functioning changes in children with Down syndrome BP29589. awarded by Hoffman-La Roche, Inc. 2015 - 2016
- To test the ability of SVP to prevent immune response in Pompe disease mouse model. awarded by Selecta Biosciences, Inc. 2015 - 2016
- Supplemental Funding for Phase 1/2 study of Clenbuterol for the Treatment of Pompe Disease awarded by Roivant Sciences, Inc. 2015 - 2016
- Long-Term registry of patients with urea Cycle Disorders (UCD) HPN-100-014 awarded by Hyperion Therapeutics, Inc. 2014 - 2016
- A randomized, double-blind, placebo-controlled, parallel group 26-week dose-investigating study to explore the pharmacokinetics, pharmacodynamic effects, efficacy, safety and tolerability of RO5186582 in children with Down syndrome aged 6-11 years. awarded by F. Hoffmann-La Roche Ltd 2015 - 2016
- The Duke Multidisciplinary Training Program in Pediatric Lung Disease awarded by National Institutes of Health 2010 - 2016
- Pfizer/ACMG Foundation Clinical Genetics Combined Residency for Translational Genomic Scholars 2015-2016 Fellowship Award awarded by American College of Medical Genetics and Genomics Foundation 2015 - 2016
- Phase 1/2 Study of Clenbuterol for the Treatment of Pompe Disease awarded by Food and Drug Administration 2013 - 2016
- UNC-Duke Collaborative Clinical Pharmacology Postdoctoral Training Program awarded by University of North Carolina - Chapel Hill 2011 - 2016
- Phase 3 BMN 701 in rhGAA Exposed Subjects with Late-Onset Pompe Disease awarded by BioMarin Pharmaceutical, Inc. 2014 - 2016
- Phase 2 Study of Efficacy, Safety and Tolerability of R05186582 in Adults with Adolescents with Down Syndrome (Clematis) awarded by F. Hoffmann-La Roche Ltd 2014 - 2016
- Roche Phase 2 Screening Study awarded by Hoffman-La Roche, Inc. 2013 - 2015
- Novel strategy for diagnosis of Pompe patients using next generation sequencing technologies awarded by Universite de Sherbrooke 2014 - 2015
- Institutional Training Grant in Pediatric Cardiology awarded by National Institutes of Health 2009 - 2015
- Late Onset Pompe Disease Patient Meeting 2015 awarded by BioMarin Pharmaceutical, Inc. 2015
- A retrospective, non-interventional, epidemiologic study of the natural history of patients with juvenile-onset hypophosphatasia (HPP) awarded by Alexion Pharmaceuticals, Inc. 2014 - 2015
- Lysosomal Disease Network Fellowship awarded by University of Minnesota 2013 - 2014
- Clinical Trial Planning in Pompe Disease awarded by National Institutes of Health 2013 - 2014
- CTSA UL awarded by National Institutes of Health 2006 - 2012
- Mechanisms for immune tolerance in Pompe Disease awarded by National Institutes of Health 2009 - 2011
- A Clinical Trial of Donepezil for Down Syndrome awarded by National Institutes of Health 2001 - 2004
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External Relationships
- Alexion Pharmaceuticals, Inc.
- Alnylam
- Amicus Therapeutics
- AskBio
- Baebies, Inc.
- Bayer
- Genzyme Corporation (Sanofi Aventis)
- Homology
- JCR Pharma
- Kriya Therapeutics, Inc.
- Mallinckrodt Pharmaceuticals
- Maze Therapeutics
- Moderna Therapeutics, Inc.
- Pharming
- Sigilon
- Syneos Health
- Takeda Pharmaceutical Co. Ltd.
- Ultragenyx
- Warden Bio
- Publications & Artistic Works
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Selected Publications
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Academic Articles
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Santoro, Stephanie L., Nicole T. Baumer, Michelle Cornacchia, Catherine Franklin, Sarah J. Hart, Kelsey Haugen, Margaret A. Hojlo, et al. “Response to Letter to the Editor by Palffy and Ghaziuddin.” Am J Med Genet A, January 6, 2023. https://doi.org/10.1002/ajmg.a.63116.Full Text Link to Item
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Kishnani, Priya S., David Kronn, Anaïs Brassier, Alexander Broomfield, James Davison, Si Houn Hahn, Satoko Kumada, et al. “Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis report.” Genet Med, December 20, 2022, 100328. https://doi.org/10.1016/j.gim.2022.10.010.Full Text Link to Item
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Oreskovic, Nicolas M., Nicole T. Baumer, Chiara Di Camillo, Michelle Cornachia, Catherine Franklin, Sarah J. Hart, Priya S. Kishnani, et al. “Cardiometabolic profiles in children and adults with overweight and obesity and down syndrome.” Am J Med Genet A, December 20, 2022. https://doi.org/10.1002/ajmg.a.63088.Full Text Link to Item
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Cohen, Jennifer L., Pranesh Chakraborty, Karen Fung-Kee-Fung, Marisa E. Schwab, Deeksha Bali, Sarah P. Young, Michael H. Gelb, et al. “In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease.” N Engl J Med 387, no. 23 (December 8, 2022): 2150–58. https://doi.org/10.1056/NEJMoa2200587.Full Text Link to Item
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Lim, Jeong-A, Priya S. Kishnani, and Baodong Sun. “Suppression of pullulanase-induced cytotoxic T cell response with a dual promoter in GSD IIIa mice.” Jci Insight 7, no. 23 (December 8, 2022). https://doi.org/10.1172/jci.insight.152970.Full Text Link to Item
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Gayed, Matthew M., Seung-Hye Jung, Erin Huggins, Eleanor Rodriguez-Rassi, Stephanie DeArmey, Priya Sunil Kishnani, and Ashlee R. Stiles. “Glucosylsphingosine (Lyso-Gb1): An Informative Biomarker in the Clinical Monitoring of Patients with Gaucher Disease.” Int J Mol Sci 23, no. 23 (November 29, 2022). https://doi.org/10.3390/ijms232314938.Full Text Open Access Copy Link to Item
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Hannah, William B., Katherine Ryan, Surekha Pendyal, T Andrew Burrow, Susan E. Harley, Miranda Cordell, Chad M. McCall, Alisha M. Mavis, Queenie K-G Tan, and Priya S. Kishnani. “Clinical insights from Wolman disease: Evaluating infantile hepatosplenomegaly.” Am J Med Genet A 188, no. 11 (November 2022): 3364–68. https://doi.org/10.1002/ajmg.a.62923.Full Text Link to Item
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Mistry, P. K., P. Kishnani, C. Wanner, D. Dong, J. Bender, J. L. Batista, and J. Foster. “Rare lysosomal disease registries: lessons learned over three decades of real-world evidence.” Orphanet J Rare Dis 17, no. 1 (October 17, 2022): 362. https://doi.org/10.1186/s13023-022-02517-0.Full Text Link to Item
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Santoro, Stephanie L., Nicole T. Baumer, Michelle Cornacchia, Catherine Franklin, Sarah J. Hart, Kelsey Haugen, Margaret A. Hojlo, et al. “Unexplained regression in Down syndrome: Management of 51 patients in an international patient database.” Am J Med Genet A 188, no. 10 (October 2022): 3049–62. https://doi.org/10.1002/ajmg.a.62922.Full Text Link to Item
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Curelaru, Shiri, Ankit K. Desai, Daniel Fink, Yoav Zehavi, Priya S. Kishnani, and Ronen Spiegel. “A favorable outcome in an infantile-onset Pompe patient with cross reactive immunological material (CRIM) negative disease with high dose enzyme replacement therapy and adjusted immunomodulation.” Mol Genet Metab Rep 32 (September 2022): 100893. https://doi.org/10.1016/j.ymgmr.2022.100893.Full Text Link to Item
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Roger, Angela L., Ronit Sethi, Meredith L. Huston, Evelyn Scarrow, Joy Bao-Dai, Elias Lai, Debolina D. Biswas, et al. “What's new and what's next for gene therapy in Pompe disease?” Expert Opin Biol Ther 22, no. 9 (September 2022): 1117–35. https://doi.org/10.1080/14712598.2022.2067476.Full Text Link to Item
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Dahir, Kathryn M., Lothar Seefried, Priya S. Kishnani, Anna Petryk, Wolfgang Högler, Agnès Linglart, Gabriel Ángel Martos-Moreno, Keiichi Ozono, Shona Fang, and Cheryl Rockman-Greenberg. “Clinical profiles of treated and untreated adults with hypophosphatasia in the Global HPP Registry.” Orphanet J Rare Dis 17, no. 1 (July 19, 2022): 277. https://doi.org/10.1186/s13023-022-02393-8.Full Text Link to Item
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El-Gharbawy, Areeg, Adviye A. Tolun, Carine A. Halaby, Stephanie L. Austin, Priya S. Kishnani, and Deeksha S. Bali. “Beyond predicting diagnosis: Is there a role for measuring biotinidase activity in liver glycogen storage diseases?” Mol Genet Metab Rep 31 (June 2022): 100856. https://doi.org/10.1016/j.ymgmr.2022.100856.Full Text Link to Item
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Hannah, William B., Ricardo C. Ong, Margarita Nieto Moreno, Surekha Pendyal, Monica Abdelmalak, Judith Kelsen, Nancy M. McGreal, and Priya S. Kishnani. “Very early-onset inflammatory bowel disease: Novel description in glycogen storage disease type Ia.” Mol Genet Metab Rep 31 (June 2022): 100848. https://doi.org/10.1016/j.ymgmr.2022.100848.Full Text Link to Item
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Dimachkie, Mazen M., Richard J. Barohn, Barry Byrne, Ozlem Goker-Alpan, Priya S. Kishnani, Shafeeq Ladha, Pascal Laforêt, et al. “Long-term Safety and Efficacy of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease.” Neurology 99, no. 5 (May 26, 2022): e536–48. https://doi.org/10.1212/WNL.0000000000200746.Full Text Link to Item
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Weinreb, Neal J., Ozlem Goker-Alpan, Priya S. Kishnani, Nicola Longo, T Andrew Burrow, John A. Bernat, Punita Gupta, et al. “The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?” Mol Genet Metab 136, no. 1 (May 2022): 4–21. https://doi.org/10.1016/j.ymgme.2022.03.001.Full Text Link to Item
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Byrne, Barry J., Steven D. Colan, Priya S. Kishnani, Meredith C. Foster, Susan E. Sparks, James B. Gibson, Kristina An Haack, et al. “Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort.” Cardiol Young 32, no. 3 (March 2022): 364–73. https://doi.org/10.1017/S1047951121002079.Full Text Link to Item
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Huggins, Erin, Maggie Holland, Laura E. Case, Janet Blount, Andrew P. Landstrom, Harrison N. Jones, and Priya S. Kishnani. “Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening.” Mol Genet Metab 135, no. 3 (March 2022): 179–85. https://doi.org/10.1016/j.ymgme.2022.01.003.Full Text Link to Item
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Goeldner, Celia, Priya S. Kishnani, Brian G. Skotko, Julian Lirio Casero, Joerg F. Hipp, Michael Derks, Maria-Clemencia Hernandez, et al. “A randomized, double-blind, placebo-controlled phase II trial to explore the effects of a GABAA-α5 NAM (basmisanil) on intellectual disability associated with Down syndrome.” J Neurodev Disord 14, no. 1 (February 5, 2022): 10. https://doi.org/10.1186/s11689-022-09418-0.Full Text Link to Item
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Kishnani, Priya S., Walla Al-Hertani, Manisha Balwani, Özlem Göker-Alpan, Heather A. Lau, Melissa Wasserstein, Neal J. Weinreb, and Gregory Grabowski. “Screening, patient identification, evaluation, and treatment in patients with Gaucher disease: Results from a Delphi consensus.” Mol Genet Metab 135, no. 2 (February 2022): 154–62. https://doi.org/10.1016/j.ymgme.2021.12.009.Full Text Link to Item
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Duong, Tina, Priya S. Kishnani, Kristina An Haack, Meredith C. Foster, James B. Gibson, Catherine Wilson, Si Houn Hahn, et al. “Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort.” J Neuromuscul Dis 9, no. 6 (2022): 713–30. https://doi.org/10.3233/JND-210784.Full Text Link to Item
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Goomber, Shelly, Erin Huggins, Catherine W. Rehder, Jennifer L. Cohen, Deeksha S. Bali, and Priya S. Kishnani. “Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening.” Front Genet 13 (2022): 1001154. https://doi.org/10.3389/fgene.2022.1001154.Full Text Link to Item
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Kiely, Bridget T., Rebecca L. Koch, Leticia Flores, Danielle Burner, Samantha Kaplan, and Priya S. Kishnani. “A novel approach to characterize phenotypic variation in GSD IV: Reconceptualizing the clinical continuum.” Front Genet 13 (2022): 992406. https://doi.org/10.3389/fgene.2022.992406.Full Text Link to Item
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Diaz-Manera, Jordi, Priya S. Kishnani, Hani Kushlaf, Shafeeq Ladha, Tahseen Mozaffar, Volker Straub, Antonio Toscano, et al. “Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial.” Lancet Neurol 20, no. 12 (December 2021): 1012–26. https://doi.org/10.1016/S1474-4422(21)00241-6.Full Text Link to Item
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Hijazi, Ghada, Anna Paschall, Sarah P. Young, Brian Smith, Laura E. Case, Tracy Boggs, Sathya Amarasekara, et al. “A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III.” Mol Genet Metab Rep 29 (December 2021): 100821. https://doi.org/10.1016/j.ymgmr.2021.100821.Full Text Link to Item
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Lucia, Alejandro, Andrea Martinuzzi, Gisela Nogales-Gadea, Ros Quinlivan, Stacey Reason, and Stacey International Association for Muscle Glycogen Storage Disease study group. “Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study group.” Neuromuscul Disord 31, no. 12 (December 2021): 1296–1310. https://doi.org/10.1016/j.nmd.2021.10.006.Full Text Link to Item
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Schoser, Benedikt, Mark Roberts, Barry J. Byrne, Sheela Sitaraman, Hai Jiang, Pascal Laforêt, Antonio Toscano, et al. “Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial.” Lancet Neurol 20, no. 12 (December 2021): 1027–37. https://doi.org/10.1016/S1474-4422(21)00331-8.Full Text Link to Item
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Paschall, Anna, Aleena A. Khan, Syed Faaiz Enam, Tracy Boggs, Ghada Hijazi, Michael Bowling, Stephanie Austin, Laura E. Case, and Priya Kishnani. “Physical therapy assessment and whole-body magnetic resonance imaging findings in children with glycogen storage disease type IIIa: A clinical study and review of the literature.” Mol Genet Metab 134, no. 3 (November 2021): 223–34. https://doi.org/10.1016/j.ymgme.2021.10.002.Full Text Link to Item
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Dornelles, Alícia Dorneles, Ana Paula Pedroso Junges, Tiago Veiga Pereira, Bárbara Corrêa Krug, Candice Beatriz Treter Gonçalves, Juan Clinton Llerena, Priya Sunil Kishnani, Haliton Alves de Oliveira, and Ida Vanessa Doederlein Schwartz. “A Systematic Review and Meta-Analysis of Enzyme Replacement Therapy in Late-Onset Pompe Disease.” J Clin Med 10, no. 21 (October 21, 2021). https://doi.org/10.3390/jcm10214828.Full Text Link to Item
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Hobson-Webb, Lisa D., Paul J. Zwelling, Shruti S. Raja, Ashley N. Pifer, and Priya S. Kishnani. “Quantitative muscle ultrasound and electrical impedance myography in late onset Pompe disease: A pilot study of reliability, longitudinal change and correlation with function.” Mol Genet Metab Rep 28 (September 2021): 100785. https://doi.org/10.1016/j.ymgmr.2021.100785.Full Text Link to Item
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Crisp, Kelly D., Amy T. Neel, Sathya Amarasekara, Jill Marcus, Gretchen Nichting, Aditi Korlimarla, Priya S. Kishnani, and Harrison N. Jones. “Assessment of Dysphonia in Children with Pompe Disease Using Auditory-Perceptual and Acoustic/Physiologic Methods.” J Clin Med 10, no. 16 (August 16, 2021). https://doi.org/10.3390/jcm10163617.Full Text Open Access Copy Link to Item
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Miller, Danny E., Arvis Sulovari, Tianyun Wang, Hailey Loucks, Kendra Hoekzema, Katherine M. Munson, Alexandra P. Lewis, et al. “Targeted long-read sequencing identifies missing disease-causing variation.” Am J Hum Genet 108, no. 8 (August 5, 2021): 1436–49. https://doi.org/10.1016/j.ajhg.2021.06.006.Full Text Link to Item
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Ezekian, Jordan E., Catherine Rehder, Priya S. Kishnani, and Andrew P. Landstrom. “Interpretation of Incidental Genetic Findings Localizing to Genes Associated With Cardiac Channelopathies and Cardiomyopathies.” Circ Genom Precis Med 14, no. 4 (August 2021): e003200. https://doi.org/10.1161/CIRCGEN.120.003200.Full Text Link to Item
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Korlimarla, Aditi, Jeong-A Lim, Paul McIntosh, Kanecia Zimmerman, Baodong D. Sun, and Priya S. Kishnani. “New Insights into Gastrointestinal Involvement in Late-Onset Pompe Disease: Lessons Learned from Bench and Bedside.” J Clin Med 10, no. 15 (July 30, 2021). https://doi.org/10.3390/jcm10153395.Full Text Open Access Copy Link to Item
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Jones, Harrison N., Lisa D. Hobson-Webb, Maragatha Kuchibhatla, Kelly D. Crisp, Ashley Whyte-Rayson, Milisa T. Batten, Paul J. Zwelling, and Priya S. Kishnani. “Tongue weakness and atrophy differentiates late-onset Pompe disease from other forms of acquired/hereditary myopathy.” Mol Genet Metab 133, no. 3 (July 2021): 261–68. https://doi.org/10.1016/j.ymgme.2021.05.005.Full Text Link to Item
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Stiles, Ashlee R., Erin Huggins, Luca Fierro, Seung-Hye Jung, Manisha Balwani, and Priya S. Kishnani. “The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease.” Molecular Genetics and Metabolism Reports 27 (June 2021): 100729. https://doi.org/10.1016/j.ymgmr.2021.100729.Full Text Open Access Copy
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Kishnani, Priya S., Guillermo Del Angel, Shanggen Zhou, and Eric T. Rush. “Investigation of ALPL variant states and clinical outcomes: An analysis of adults and adolescents with hypophosphatasia treated with asfotase alfa.” Mol Genet Metab 133, no. 1 (May 2021): 113–21. https://doi.org/10.1016/j.ymgme.2021.03.011.Full Text Link to Item
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Li, Cindy, Ankit K. Desai, Punita Gupta, Katherine Dempsey, Vikas Bhambhani, Robert J. Hopkin, Can Ficicioglu, et al. “Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction.” Genet Med 23, no. 5 (May 2021): 845–55. https://doi.org/10.1038/s41436-020-01080-y.Full Text Link to Item
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Puri, Ratna Dua, Nitika Setia, Vinu N, Sujatha Jagadeesh, Sheela Nampoothiri, Neerja Gupta, Mamta Muranjan, et al. “Late onset Pompe Disease in India - Beyond the Caucasian phenotype.” Neuromuscul Disord 31, no. 5 (May 2021): 431–41. https://doi.org/10.1016/j.nmd.2021.02.013.Full Text Link to Item
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Wang, Jason, Chris J. Zhou, Alastair Khodabukus, Sabrina Tran, Sang-Oh Han, Aaron L. Carlson, Lauran Madden, Priya S. Kishnani, Dwight D. Koeberl, and Nenad Bursac. “Three-dimensional tissue-engineered human skeletal muscle model of Pompe disease.” Communications Biology 4, no. 1 (May 2021): 524. https://doi.org/10.1038/s42003-021-02059-4.Full Text
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Hendrix, James A., David C. Airey, Angela Britton, Anna D. Burke, George T. Capone, Ronelyn Chavez, Jacqueline Chen, et al. “Cross-Sectional Exploration of Plasma Biomarkers of Alzheimer's Disease in Down Syndrome: Early Data from the Longitudinal Investigation for Enhancing Down Syndrome Research (LIFE-DSR) Study.” J Clin Med 10, no. 9 (April 28, 2021). https://doi.org/10.3390/jcm10091907.Full Text Link to Item
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Young, Sarah P., Aleena Khan, Ela Stefanescu, Andrea M. Seifts, Ghada Hijazi, Stephanie Austin, and Priya S. Kishnani. “Diurnal variability of glucose tetrasaccharide (Glc4) excretion in patients with glycogen storage disease type III.” Jimd Rep 58, no. 1 (March 2021): 37–43. https://doi.org/10.1002/jmd2.12181.Full Text Link to Item
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Vernuccio, Federica, Stephanie Austin, Mathias Meyer, Cynthia D. Guy, Priya S. Kishnani, and Daniele Marin. “"Bull's eye" appearance of hepatocellular adenomas in patients with glycogen storage disease type I - atypical magnetic resonance imaging findings: Two case reports.” World J Clin Cases 9, no. 4 (February 6, 2021): 871–77. https://doi.org/10.12998/wjcc.v9.i4.871.Full Text Link to Item
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Korlimarla, Aditi, Jeong-A Lim, Paul McIntosh, Baodong Sun, and Priya S. Kishnani. “New insights into GI manifestations in late-onset Pompe disease: Lessons from the bench and bedside.” Molecular Genetics and Metabolism 132, no. 2 (February 2021): S58–59. https://doi.org/10.1016/j.ymgme.2020.12.130.Full Text Open Access Copy
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Chauhan, Dinesh K., Vibhakar Vasudeva, Pooja Shah, and Priya Kishnani. “Anaesthetic Management of a Patient with Myasthenia Gravis Posted for Tonsillectomy- A Case Report.” Journal of Clinical and Diagnostic Research, 2021. https://doi.org/10.7860/jcdr/2021/47603.15037.Full Text
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De Groot, Anne S., Ankit K. Desai, Sandra Lelias, SM Shahjahan Miah, Frances E. Terry, Sundos Khan, Cindy Li, et al. “Immune Tolerance-Adjusted Personalized Immunogenicity Prediction for Pompe Disease.” Front Immunol 12 (2021): 636731. https://doi.org/10.3389/fimmu.2021.636731.Full Text Link to Item
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Fernandes, Samuela A., Aleena A. Khan, Tracy Boggs, Michael Bowling, Stephanie Austin, Mihaela Stefanescu, Laura Case, and Priya S. Kishnani. “Quantitative whole-body magnetic resonance imaging in children with Pompe disease: Clinical tools to evaluate severity of muscle disease.” Jimd Rep 57, no. 1 (January 2021): 94–101. https://doi.org/10.1002/jmd2.12174.Full Text Link to Item
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Hart, Sarah J., Gordon Worley, Priya S. Kishnani, and Heather Van Mater. “Case Report: Improvement Following Immunotherapy in an Individual With Seronegative Down Syndrome Disintegrative Disorder.” Front Neurol 12 (2021): 621637. https://doi.org/10.3389/fneur.2021.621637.Full Text Link to Item
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Kishnani, Priya, Dharmishthaben Chakarani, Jigisha Mehta, and Malini Mehta. “Popliteal Nerve Block as an Alternative to Spinal Anaesthesia for Ankle Surgery in Comorbid Patient- A Case Report.” Journal of Clinical and Diagnostic Research, 2021. https://doi.org/10.7860/jcdr/2021/47579.14704.Full Text
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Seefried, Lothar, Priya S. Kishnani, Scott Moseley, Andrew E. Denker, Eric Watsky, Michael P. Whyte, and Kathryn M. Dahir. “Pharmacodynamics of asfotase alfa in adults with pediatric-onset hypophosphatasia.” Bone 142 (January 2021): 115664. https://doi.org/10.1016/j.bone.2020.115664.Full Text Link to Item
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Huggins, Erin, Ricardo Ong, Cheryl Rockman-Greenberg, Lauren Bailey Flueckinger, Kathryn M. Dahir, and Priya S. Kishnani. “Multigenerational case examples of hypophosphatasia: Challenges in genetic counseling and disease management.” Mol Genet Metab Rep 25 (December 2020): 100661. https://doi.org/10.1016/j.ymgmr.2020.100661.Full Text Link to Item
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Korlimarla, Aditi, Gail A. Spiridigliozzi, Mihaela Stefanescu, Stephanie L. Austin, and Priya S. Kishnani. “Behavioral, social and school functioning in children with Pompe disease.” Mol Genet Metab Rep 25 (December 2020): 100635. https://doi.org/10.1016/j.ymgmr.2020.100635.Full Text Open Access Copy Link to Item
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Fernandes, Samuela A., Gabrielle E. Cooper, Rebecca Anne Gibson, and Priya S. Kishnani. “Benign or not benign? Deep phenotyping of liver Glycogen Storage Disease IX.” Mol Genet Metab 131, no. 3 (November 2020): 299–305. https://doi.org/10.1016/j.ymgme.2020.10.004.Full Text Link to Item
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Jones, Harrison N., Maragatha Kuchibhatla, Kelly D. Crisp, Lisa D. Hobson-Webb, Laura Case, Milisa T. Batten, Jill A. Marcus, Richard M. Kravitz, and Priya S. Kishnani. “Respiratory muscle training in late-onset Pompe disease: Results of a sham-controlled clinical trial.” Neuromuscul Disord 30, no. 11 (November 2020): 904–14. https://doi.org/10.1016/j.nmd.2020.09.023.Full Text Link to Item
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Seefried, Lothar, Kathryn Dahir, Anna Petryk, Wolfgang Högler, Agnès Linglart, Gabriel Ángel Martos-Moreno, Keiichi Ozono, Shona Fang, Cheryl Rockman-Greenberg, and Priya S. Kishnani. “Burden of Illness in Adults With Hypophosphatasia: Data From the Global Hypophosphatasia Patient Registry.” J Bone Miner Res 35, no. 11 (November 2020): 2171–78. https://doi.org/10.1002/jbmr.4130.Full Text Link to Item
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Young, Sarah P., Aleena A. Khan, Stephanie L. Austin, and Priya S. Kishnani. “Response to Heiner-Fokkema et al.” Genet Med 22, no. 11 (November 2020): 1917–18. https://doi.org/10.1038/s41436-020-0879-1.Full Text Link to Item
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Harfouche, Melodi, Priya S. Kishnani, Eva Krusinska, Jamie Gault, Sheela Sitaraman, Amanda Sowinski, Irina Katz, Stephanie Austin, Margi Goldstein, and Andrew E. Mulberg. “Use of the patient-reported outcomes measurement information system (PROMIS®) to assess late-onset Pompe disease severity.” J Patient Rep Outcomes 4, no. 1 (October 9, 2020): 83. https://doi.org/10.1186/s41687-020-00245-2.Full Text Link to Item
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Desai, Ankit K., Amy S. Rosenberg, and Priya S. Kishnani. “The potential impact of timing of IVIG administration on the efficacy of rituximab for immune tolerance induction for patients with Pompe disease.” Clin Immunol 219 (October 2020): 108541. https://doi.org/10.1016/j.clim.2020.108541.Full Text Link to Item
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Stockton, David W., Priya Kishnani, Ans van der Ploeg, Juan Llerena, Matthias Boentert, Mark Roberts, Barry J. Byrne, et al. “Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment start.” J Neurol 267, no. 10 (October 2020): 3038–53. https://doi.org/10.1007/s00415-020-09936-8.Full Text Link to Item
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Goker-Alpan, Ozlem, Vellore G. Kasturi, Maninder K. Sohi, Renuka P. Limgala, Stephanie L. Austin, Tabitha Jennelle, Maryam Banikazemi, and Priya S. Kishnani. “Pregnancy Outcomes in Late Onset Pompe Disease.” Life (Basel) 10, no. 9 (September 11, 2020). https://doi.org/10.3390/life10090194.Full Text Link to Item
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Lim, Jeong-A, Su Jin Choi, Fengqin Gao, Priya S. Kishnani, and Baodong Sun. “A Novel Gene Therapy Approach for GSD III Using an AAV Vector Encoding a Bacterial Glycogen Debranching Enzyme.” Mol Ther Methods Clin Dev 18 (September 11, 2020): 240–49. https://doi.org/10.1016/j.omtm.2020.05.034.Full Text Link to Item
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Mistry, Pramod K., Manisha Balwani, Joel Charrow, Priya Kishnani, Claus Niederau, Lisa H. Underhill, and Monica R. McClain. “Real-world effectiveness of eliglustat in treatment-naïve and switch patients enrolled in the International Collaborative Gaucher Group Gaucher Registry.” Am J Hematol 95, no. 9 (September 2020): 1038–46. https://doi.org/10.1002/ajh.25875.Full Text Link to Item
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Korlimarla, Aditi, Gail A. Spiridigliozzi, Kelly Crisp, Mrudu Herbert, Steven Chen, Michael Malinzak, Mihaela Stefanescu, et al. “Novel approaches to quantify CNS involvement in children with Pompe disease.” Neurology 95, no. 6 (August 11, 2020): e718–32. https://doi.org/10.1212/WNL.0000000000009979.Full Text Open Access Copy Link to Item
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Hariharan, Priya, Pooja Kishnani, Pratibha Sawant, Manju Gorivale, Pallavi Mehta, Neha Kargutkar, Roshan Colah, and Anita Nadkarni. “Genotypic-phenotypic heterogeneity of δβ-thalassemia and hereditary persistence of fetal hemoglobin (HPFH) in India.” Ann Hematol 99, no. 7 (July 2020): 1475–83. https://doi.org/10.1007/s00277-020-04081-8.Full Text Link to Item
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Mistry, Pramod, Manisha Balwani, Deborah Barbouth, T Andrew Burrow, Edward I. Ginns, Ozlem Goker-Alpan, Gregory A. Grabowski, et al. “Gaucher disease and SARS-CoV-2 infection: Emerging management challenges.” Mol Genet Metab 130, no. 3 (July 2020): 164–69. https://doi.org/10.1016/j.ymgme.2020.05.002.Full Text Link to Item
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Rossi, Alessandro, Irene J. Hoogeveen, Vanessa B. Bastek, Foekje de Boer, Chiara Montanari, Uta Meyer, Arianna Maiorana, et al. “Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations.” J Inherit Metab Dis 43, no. 4 (July 2020): 770–77. https://doi.org/10.1002/jimd.12224.Full Text Link to Item
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Snyder, Heather M., Lisa J. Bain, Adam M. Brickman, Maria C. Carrillo, Anna J. Esbensen, Joaquin M. Espinosa, Fabian Fernandez, et al. “Further understanding the connection between Alzheimer's disease and Down syndrome.” Alzheimers Dement 16, no. 7 (July 2020): 1065–77. https://doi.org/10.1002/alz.12112.Full Text Link to Item
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Jones, Harrison N., Samuela Fernandes, William B. Hannah, Sujay Kansagra, Eileen M. Raynor, and Priya S. Kishnani. “Adenotonsillectomy should be avoided whenever possible in infantile-onset Pompe disease.” Mol Genet Metab Rep 23 (June 2020): 100574. https://doi.org/10.1016/j.ymgmr.2020.100574.Full Text Link to Item
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Khan, Aleena A., Laura E. Case, Mrudu Herbert, Stephanie DeArmey, Harrison Jones, Kelly Crisp, Kanecia Zimmerman, Mai K. ElMallah, Sarah P. Young, and Priya S. Kishnani. “Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature.” Genet Med 22, no. 5 (May 2020): 898–907. https://doi.org/10.1038/s41436-019-0738-0.Full Text Link to Item
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Khan, Aleena A., Tracy Boggs, Michael Bowling, Stephanie Austin, Mihaela Stefanescu, Laura Case, and Priya S. Kishnani. “Whole-body magnetic resonance imaging in late-onset Pompe disease: Clinical utility and correlation with functional measures.” J Inherit Metab Dis 43, no. 3 (May 2020): 549–57. https://doi.org/10.1002/jimd.12190.Full Text Link to Item
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Santoro, Stephanie L., Sheila Cannon, George Capone, Cathy Franklin, Sarah J. Hart, Victoria Hobensack, Priya S. Kishnani, et al. “Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database.” Genet Med 22, no. 4 (April 2020): 767–76. https://doi.org/10.1038/s41436-019-0706-8.Full Text Link to Item
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ElMallah, Mai K., Ankit K. Desai, Erica B. Nading, Stephanie DeArmey, Richard M. Kravitz, and Priya S. Kishnani. “Pulmonary outcome measures in long-term survivors of infantile Pompe disease on enzyme replacement therapy: A case series.” Pediatr Pulmonol 55, no. 3 (March 2020): 674–81. https://doi.org/10.1002/ppul.24621.Full Text Link to Item
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Hart, Sarah J., Kanecia Zimmerman, Corinne M. Linardic, Sheila Cannon, Anna Pastore, Vasiliki Patsiogiannis, Paolo Rossi, et al. “Response to Zhang et al.” Genet Med 22, no. 3 (March 2020): 662. https://doi.org/10.1038/s41436-019-0690-z.Full Text Link to Item
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Han, Sang-Oh, Alexina C. Haynes, Songtao Li, Dennis M. Abraham, Priya S. Kishnani, Richard Steet, and Dwight D. Koeberl. “Evaluation of antihypertensive drugs in combination with enzyme replacement therapy in mice with Pompe disease.” Mol Genet Metab 129, no. 2 (February 2020): 73–79. https://doi.org/10.1016/j.ymgme.2019.10.005.Full Text Link to Item
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Hart, Sarah J., Kanecia Zimmerman, Corinne M. Linardic, Sheila Cannon, Anna Pastore, Vasiliki Patsiogiannis, Paolo Rossi, et al. “Detection of iron deficiency in children with Down syndrome.” Genet Med 22, no. 2 (February 2020): 317–25. https://doi.org/10.1038/s41436-019-0637-4.Full Text Link to Item
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Koeberl, Dwight D., Laura E. Case, Ankit Desai, Edward C. Smith, Crista Walters, Sang-Oh Han, Beth L. Thurberg, Sarah P. Young, Deeksha Bali, and Priya S. Kishnani. “Improved muscle function in a phase I/II clinical trial of albuterol in Pompe disease.” Mol Genet Metab 129, no. 2 (February 2020): 67–72. https://doi.org/10.1016/j.ymgme.2019.12.008.Full Text Link to Item
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Crisp, Kelly D., Laura E. Case, Richard M. Kravitz, Priya S. Kishnani, and Harrison N. Jones. “Training, detraining, and retraining: Two 12-week respiratory muscle training regimens in a child with infantile-onset Pompe disease.” J Pediatr Rehabil Med 13, no. 1 (2020): 71–80. https://doi.org/10.3233/PRM-190601.Full Text Link to Item
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Desai, Ankit K., Carolyn H. Baloh, John W. Sleasman, Amy S. Rosenberg, and Priya S. Kishnani. “Benefits of Prophylactic Short-Course Immune Tolerance Induction in Patients With Infantile Pompe Disease: Demonstration of Long-Term Safety and Efficacy in an Expanded Cohort.” Front Immunol 11 (2020): 1727. https://doi.org/10.3389/fimmu.2020.01727.Full Text Link to Item
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Gupta, Neerja, Zoheb B. Kazi, Sheela Nampoothiri, Sujatha Jagdeesh, Madhulika Kabra, Ratna Dua Puri, Mamta Muranjan, et al. “Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe Disease.” J Pediatr 216 (January 2020): 44-50.e5. https://doi.org/10.1016/j.jpeds.2019.08.058.Full Text Link to Item
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Gupta, Punita, Brian J. Shayota, Ankit K. Desai, Fuad Kiblawi, Dorothy Myridakis, John Messina, Peter Tah, Lorien Tambini-King, and Priya S. Kishnani. “A Race Against Time-Changing the Natural History of CRIM Negative Infantile Pompe Disease.” Front Immunol 11 (2020): 1929. https://doi.org/10.3389/fimmu.2020.01929.Full Text Link to Item
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Julien, Daniel C., Kara Woolgar, Laura Pollard, Holly Miller, Ankit Desai, Kristin Lindstrom, and Priya S. Kishnani. “Immune Modulation for Enzyme Replacement Therapy in A Female Patient With Hunter Syndrome.” Front Immunol 11 (2020): 1000. https://doi.org/10.3389/fimmu.2020.01000.Full Text Link to Item
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Halaby, Carine A., Sarah P. Young, Stephanie Austin, Ela Stefanescu, Deeksha Bali, Lani K. Clinton, Brian Smith, et al. “Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring.” Genet Med 21, no. 12 (December 2019): 2686–94. https://doi.org/10.1038/s41436-019-0561-7.Full Text Link to Item
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Kishnani, Priya S., James B. Gibson, Michael J. Gambello, Richard Hillman, David W. Stockton, David Kronn, Nancy D. Leslie, et al. “Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.” Genet Med 21, no. 11 (November 2019): 2543–51. https://doi.org/10.1038/s41436-019-0527-9.Full Text Link to Item
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Reuser, Arnold J. J., Ans T. van der Ploeg, Yin-Hsiu Chien, Juan Llerena, Mary-Alice Abbott, Paula R. Clemens, Virginia E. Kimonis, et al. “GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.” Hum Mutat 40, no. 11 (November 2019): 2146–64. https://doi.org/10.1002/humu.23878.Full Text Link to Item
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Kishnani, Priya S., Baodong Sun, and Dwight D. Koeberl. “Gene therapy for glycogen storage diseases.” Hum Mol Genet 28, no. R1 (October 1, 2019): R31–41. https://doi.org/10.1093/hmg/ddz133.Full Text Link to Item
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Desai, Ankit K., Zoheb B. Kazi, Deeksha S. Bali, and Priya S. Kishnani. “Characterization of immune response in Cross-Reactive Immunological Material (CRIM)-positive infantile Pompe disease patients treated with enzyme replacement therapy.” Mol Genet Metab Rep 20 (September 2019): 100475. https://doi.org/10.1016/j.ymgmr.2019.100475.Full Text Link to Item
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Bond, J. E., P. S. Kishnani, and D. D. Koeberl. “Immunomodulatory, liver depot gene therapy for Pompe disease.” Cell Immunol 342 (August 2019): 103737. https://doi.org/10.1016/j.cellimm.2017.12.011.Full Text Link to Item
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Jones, Harrison N., Maragatha Kuchibhatla, Kelly D. Crisp, Lisa D. Hobson Webb, Laura Case, Milisa T. Batten, Jill A. Marcus, Richard M. Kravitz, and Priya S. Kishnani. “[Not Available].” Mol Genet Metab 127, no. 4 (August 2019): 346–54. https://doi.org/10.1016/j.ymgme.2019.05.001.Full Text Link to Item
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Cardinale, Kathleen M., Alexandra Bocharnikov, Sarah J. Hart, Jane Ann Baker, Christopher Eckstein, Joan M. Jasien, William Gallentine, Gordon Worley, Priya S. Kishnani, and Heather Van Mater. “Immunotherapy in selected patients with Down syndrome disintegrative disorder.” Dev Med Child Neurol 61, no. 7 (July 2019): 847–51. https://doi.org/10.1111/dmcn.14127.Full Text Link to Item
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Desai, Ankit K., Cindy Li, Amy S. Rosenberg, and Priya S. Kishnani. “Immunological challenges and approaches to immunomodulation in Pompe disease: a literature review.” Ann Transl Med 7, no. 13 (July 2019): 285. https://doi.org/10.21037/atm.2019.05.27.Full Text Link to Item
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Gospe, Sidney M., Cecilia Santiago-Turla, Stephanie M. DeArmey, Thomas J. Cummings, Priya S. Kishnani, and M Tariq Bhatti. “Ectopic Ocular Surface Calcification in Patients With Hypophosphatasia Treated With Asfotase Alfa.” Cornea 38, no. 7 (July 2019): 896–900. https://doi.org/10.1097/ICO.0000000000001947.Full Text Link to Item
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Jones, Harrison N., Kelly D. Crisp, Maragatha Kuchibhatla, Leslie Mahler, Thomas Risoli, Carlee W. Jones, and Priya Kishnani. “Auditory-Perceptual Speech Features in Children With Down Syndrome.” Am J Intellect Dev Disabil 124, no. 4 (July 2019): 324–38. https://doi.org/10.1352/1944-7558-124.4.324.Full Text Link to Item
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Kishnani, Priya S., and Dwight D. Koeberl. “Liver depot gene therapy for Pompe disease.” Ann Transl Med 7, no. 13 (July 2019): 288. https://doi.org/10.21037/atm.2019.05.02.Full Text Link to Item
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Korlimarla, Aditi, Jeong-A Lim, Priya S. Kishnani, and Baodong Sun. “An emerging phenotype of central nervous system involvement in Pompe disease: from bench to bedside and beyond.” Ann Transl Med 7, no. 13 (July 2019): 289. https://doi.org/10.21037/atm.2019.04.49.Full Text Open Access Copy Link to Item
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Mistry, Pramod K., Manisha Balwani, Hagit N. Baris, Hadhami Ben Turkia, T Andrew Burrow, Joel Charrow, Gerald F. Cox, et al. “Addendum to Letter to the Editor: Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1.” Blood Cells Mol Dis 77 (July 2019): 101–2. https://doi.org/10.1016/j.bcmd.2019.04.003.Full Text Link to Item
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Kazi, Zoheb B., Ankit K. Desai, R Bradley Troxler, David Kronn, Seymour Packman, Marta Sabbadini, William B. Rizzo, et al. “An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease.” Genet Med 21, no. 4 (April 2019): 887–95. https://doi.org/10.1038/s41436-018-0270-7.Full Text Link to Item
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Kishnani, Priya S., Cheryl Rockman-Greenberg, Frank Rauch, M Tariq Bhatti, Scott Moseley, Andrew E. Denker, Eric Watsky, and Michael P. Whyte. “Five-year efficacy and safety of asfotase alfa therapy for adults and adolescents with hypophosphatasia.” Bone 121 (April 2019): 149–62. https://doi.org/10.1016/j.bone.2018.12.011.Full Text Link to Item
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Kishnani, Priya S., Jennifer Goldstein, Stephanie L. Austin, Pamela Arn, Bert Bachrach, Deeksha S. Bali, Wendy K. Chung, et al. “Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).” Genet Med 21, no. 4 (April 2019): 772–89. https://doi.org/10.1038/s41436-018-0364-2.Full Text Link to Item
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Lim, Jeong-A, Haiqing Yi, Fengqin Gao, Nina Raben, Priya S. Kishnani, and Baodong Sun. “Intravenous Injection of an AAV-PHP.B Vector Encoding Human Acid α-Glucosidase Rescues Both Muscle and CNS Defects in Murine Pompe Disease.” Mol Ther Methods Clin Dev 12 (March 15, 2019): 233–45. https://doi.org/10.1016/j.omtm.2019.01.006.Full Text Link to Item
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De Groot, A. S., Z. B. Kazi, R. F. Martin, F. E. Terry, A. K. Desai, W. D. Martin, and P. S. Kishnani. “HLA- and genotype-based risk assessment model to identify infantile onset pompe disease patients at high-risk of developing significant anti-drug antibodies (ADA).” Clin Immunol 200 (March 2019): 66–70. https://doi.org/10.1016/j.clim.2019.01.009.Full Text Link to Item
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Jauhari, Prashant, Arushi Gahlot Saini, Renu Suthar, Naveen Sankhyan, Catherine Rehder, Priya Kishnani, Neerja Gupta, Madhulika Kabra, and Pratibha Singhi. “Thenar Hypertrophy and Electrical Myotonia in Pompe Disease.” J Clin Neuromuscul Dis 20, no. 3 (March 2019): 135–37. https://doi.org/10.1097/CND.0000000000000195.Full Text Link to Item
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Högler, Wolfgang, Craig Langman, Hugo Gomes da Silva, Shona Fang, Agnès Linglart, Keiichi Ozono, Anna Petryk, Cheryl Rockman-Greenberg, Lothar Seefried, and Priya S. Kishnani. “Diagnostic delay is common among patients with hypophosphatasia: initial findings from a longitudinal, prospective, global registry.” Bmc Musculoskelet Disord 20, no. 1 (February 14, 2019): 80. https://doi.org/10.1186/s12891-019-2420-8.Full Text Link to Item
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Herbert, Mrudu, Laura E. Case, Mugdha Rairikar, Heidi Cope, Lauren Bailey, Stephanie L. Austin, and Priya S. Kishnani. “Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32-13 T > G variant.” Mol Genet Metab 126, no. 2 (February 2019): 106–16. https://doi.org/10.1016/j.ymgme.2018.08.009.Full Text Link to Item
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Potnis, Kunal C., Lauren B. Flueckinger, Christine I. Ha, Jariya Upadia, Donald P. Frush, and Priya S. Kishnani. “Bone manifestations in neuronopathic Gaucher disease while receiving high-dose enzyme replacement therapy.” Mol Genet Metab 126, no. 2 (February 2019): 157–61. https://doi.org/10.1016/j.ymgme.2018.11.004.Full Text Link to Item
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Dale, David C., Audrey Anna Bolyard, Tracy Marrero, Merideth L. Kelley, Vahagn Makaryan, Emily Tran, Jamie Leung, et al. “Neutropenia in glycogen storage disease Ib: outcomes for patients treated with granulocyte colony-stimulating factor.” Curr Opin Hematol 26, no. 1 (January 2019): 16–21. https://doi.org/10.1097/MOH.0000000000000474.Full Text Open Access Copy Link to Item
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Spiridigliozzi, Gail A., Celia Goeldner, Jamie Edgin, Sarah J. Hart, Jana Noeldeke, Lisa Squassante, Jeannie Visootsak, et al. “Adaptive behavior in adolescents and adults with Down syndrome: Results from a 6-month longitudinal study.” Am J Med Genet A 179, no. 1 (January 2019): 85–93. https://doi.org/10.1002/ajmg.a.60685.Full Text Link to Item
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Korlimarla, A., S. Austin, B. Sun, and P. Kishnani. “Hepatic Manifestations in Glycogen Storage Disease Type III.” Current Pathobiology Reports 6, no. 4 (December 1, 2018): 233–40. https://doi.org/10.1007/s40139-018-0182-x.Full Text Open Access Copy
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Potnis, Kunal C., Lauren B. Flueckinger, Stephanie M. DeArmey, Roy N. Alcalay, Jeffrey W. Cooney, and Priya S. Kishnani. “Corticobasal syndrome in a man with Gaucher disease type 1: Expansion of the understanding of the neurological spectrum.” Mol Genet Metab Rep 17 (December 2018): 69–72. https://doi.org/10.1016/j.ymgmr.2018.10.001.Full Text Open Access Copy Link to Item
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Brooks, Elizabeth D., Priya S. Kishnani, and Dwight D. Koeberl. “Letter to the Editors: Concerning "Long-term safety and efficacy of AAV gene therapy in the canine model of glycogen storage disease type Ia" by Lee et al.” J Inherit Metab Dis 41, no. 6 (November 2018): 913–14. https://doi.org/10.1007/s10545-018-0248-2.Full Text Link to Item
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Herbert, Mrudu, Surekha Pendyal, Mugdha Rairikar, Carine Halaby, Robert W. Benjamin, and Priya S. Kishnani. “Role of continuous glucose monitoring in the management of glycogen storage disorders.” J Inherit Metab Dis 41, no. 6 (November 2018): 917–27. https://doi.org/10.1007/s10545-018-0200-5.Full Text Link to Item
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Hahn, Si Houn, David Kronn, Nancy D. Leslie, Loren D. M. Pena, Pranoot Tanpaiboon, Michael J. Gambello, James B. Gibson, et al. “Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study.” Genet Med 20, no. 10 (October 2018): 1284–94. https://doi.org/10.1038/gim.2018.2.Full Text Link to Item
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Haskell, Gloria T., Mari Mori, Cynthia Powell, Timothy J. Amrhein, Gillian I. Rice, Lauren Bailey, Natasha Strande, et al. “Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology case.” Cold Spring Harb Mol Case Stud 4, no. 5 (October 2018). https://doi.org/10.1101/mcs.a002758.Full Text Link to Item
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Koeberl, Dwight D., Laura E. Case, Edward C. Smith, Crista Walters, Sang-Oh Han, Yanzhen Li, Wei Chen, et al. “Correction of Biochemical Abnormalities and Improved Muscle Function in a Phase I/II Clinical Trial of Clenbuterol in Pompe Disease.” Mol Ther 26, no. 9 (September 5, 2018): 2304–14. https://doi.org/10.1016/j.ymthe.2018.06.023.Full Text Link to Item
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Herbert, Mrudu, Heidi Cope, Jennifer S. Li, and Priya S. Kishnani. “Severe Cardiac Involvement Is Rare in Patients with Late-Onset Pompe Disease and the Common c.-32-13T>G Variant: Implications for Newborn Screening.” J Pediatr 198 (July 2018): 308–12. https://doi.org/10.1016/j.jpeds.2018.02.007.Full Text Link to Item
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Mistry, Pramod K., Manisha Balwani, Hagit N. Baris, Hadhami Ben Turkia, T Andrew Burrow, Joel Charrow, Gerald F. Cox, et al. “Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1.” Blood Cells Mol Dis 71 (July 2018): 71–74. https://doi.org/10.1016/j.bcmd.2018.04.001.Full Text Link to Item
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Schwartz, Ida Vanessa D., Özlem Göker-Alpan, Priya S. Kishnani, Ari Zimran, Lydie Renault, Zoya Panahloo, Patrick Deegan, and Patrick GOS Study group. “Characteristics of 26 patients with type 3 Gaucher disease: A descriptive analysis from the Gaucher Outcome Survey.” Mol Genet Metab Rep 14 (March 2018): 73–79. https://doi.org/10.1016/j.ymgmr.2017.10.011.Full Text Link to Item
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Puri, Ratna Dua, Seema Kapoor, Priya S. Kishnani, Ashwin Dalal, Neerja Gupta, Mamta Muranjan, Shubha R. Phadke, et al. “Diagnosis and Management of Gaucher Disease in India - Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics.” Indian Pediatr 55, no. 2 (February 15, 2018): 143–53.Link to Item
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Desai, Ankit K., Crista K. Walters, Heidi L. Cope, Zoheb B. Kazi, Stephanie M. DeArmey, and Priya S. Kishnani. “Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalation.” Mol Genet Metab 123, no. 2 (February 2018): 92–96. https://doi.org/10.1016/j.ymgme.2017.12.435.Full Text Link to Item
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Krosschell, Kristin J., John T. Kissel, Elise L. Townsend, Sarah D. Simeone, Ren Zhe Zhang, Sandra P. Reyna, Thomas O. Crawford, et al. “Clinical trial of L-Carnitine and valproic acid in spinal muscular atrophy type I.” Muscle Nerve 57, no. 2 (February 2018): 193–99. https://doi.org/10.1002/mus.25776.Full Text Link to Item
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McIntosh, Paul T., Lisa D. Hobson-Webb, Zoheb B. Kazi, Sean N. Prater, Suhrad G. Banugaria, Stephanie Austin, Raymond Wang, David S. Enterline, Donald P. Frush, and Priya S. Kishnani. “Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy.” Mol Genet Metab 123, no. 2 (February 2018): 85–91. https://doi.org/10.1016/j.ymgme.2017.10.005.Full Text Link to Item
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Lim, Han-Hyuk, Haiqing Yi, Takashi K. Kishimoto, Fengqin Gao, Baodong Sun, and Priya S. Kishnani. “A pilot study on using rapamycin-carrying synthetic vaccine particles (SVP) in conjunction with enzyme replacement therapy to induce immune tolerance in Pompe disease.” Mol Genet Metab Rep 13 (December 2017): 18–22. https://doi.org/10.1016/j.ymgmr.2017.03.005.Full Text Open Access Copy Link to Item
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Mori, Mari, Gloria Haskell, Zoheb Kazi, Xiaolin Zhu, Stephanie M. DeArmey, Jennifer L. Goldstein, Deeksha Bali, Catherine Rehder, Elizabeth T. Cirulli, and Priya S. Kishnani. “Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.” Mol Genet Metab 122, no. 4 (December 2017): 189–97. https://doi.org/10.1016/j.ymgme.2017.10.008.Full Text Link to Item
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Hart, Sarah J., Jeannie Visootsak, Paul Tamburri, Patrick Phuong, Nicole Baumer, Maria-Clemencia Hernandez, Brian G. Skotko, et al. “Pharmacological interventions to improve cognition and adaptive functioning in Down syndrome: Strides to date.” Am J Med Genet A 173, no. 11 (November 2017): 3029–41. https://doi.org/10.1002/ajmg.a.38465.Full Text Link to Item
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Herbert, Mrudu, Zoheb B. Kazi, Susan Richards, Amy S. Rosenberg, and Priya S. Kishnani. “Response to de Vries et al.” Genet Med 19, no. 11 (November 2017): 1281–82. https://doi.org/10.1038/gim.2017.48.Full Text Link to Item
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Keeling, Lori A., Gail A. Spiridigliozzi, Sarah J. Hart, Jane A. Baker, Harrison N. Jones, and Priya S. Kishnani. “Challenges in measuring the effects of pharmacological interventions on cognitive and adaptive functioning in individuals with Down syndrome: A systematic review.” Am J Med Genet A 173, no. 11 (November 2017): 3058–66. https://doi.org/10.1002/ajmg.a.38416.Full Text Link to Item
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Rairikar, Mugdha V., Laura E. Case, Lauren A. Bailey, Zoheb B. Kazi, Ankit K. Desai, Kathryn L. Berrier, Julie Coats, Rachel Gandy, Rebecca Quinones, and Priya S. Kishnani. “Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G "late-onset" GAA variant.” Mol Genet Metab 122, no. 3 (November 2017): 99–107. https://doi.org/10.1016/j.ymgme.2017.09.008.Full Text Link to Item
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Torok, Rachel D., Stephanie L. Austin, Chanika Phornphutkul, Kathleen M. Rotondo, Deeksha Bali, Gregory H. Tatum, Stephanie B. Wechsler, Anne F. Buckley, and Priya S. Kishnani. “PRKAG2 mutations presenting in infancy.” J Inherit Metab Dis 40, no. 6 (November 2017): 823–30. https://doi.org/10.1007/s10545-017-0072-0.Full Text Link to Item
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McIntosh, Paul, Stephanie Austin, Jennifer Sullivan, Lauren Bailey, Carrie Bailey, David Viskochil, and Priya S. Kishnani. “Three cases of multi-generational Pompe disease: Are current practices missing diagnostic and treatment opportunities?” Am J Med Genet A 173, no. 10 (October 2017): 2628–34. https://doi.org/10.1002/ajmg.a.38369.Full Text Link to Item
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Ha, Christine I., Stephanie DeArmey, Heidi Cope, Mugdha Rairikar, and Priya S. Kishnani. “Treatment of profound thrombocytopenia in a patient with Gaucher disease type 1: Is there a role for substrate reduction therapy.” Mol Genet Metab Rep 12 (September 2017): 82–84. https://doi.org/10.1016/j.ymgmr.2017.06.003.Full Text Link to Item
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Kishnani, Priya S., Eric T. Rush, Paul Arundel, Nick Bishop, Kathryn Dahir, William Fraser, Paul Harmatz, et al. “Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa.” Mol Genet Metab 122, no. 1–2 (September 2017): 4–17. https://doi.org/10.1016/j.ymgme.2017.07.010.Full Text Link to Item
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Mistry, Pramod K., Julie L. Batista, Hans C. Andersson, Manisha Balwani, Thomas Andrew Burrow, Joel Charrow, Paige Kaplan, et al. “Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry.” Am J Hematol 92, no. 9 (September 2017): 929–39. https://doi.org/10.1002/ajh.24801.Full Text Link to Item
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Rairikar, Mugdha, Zoheb B. Kazi, Ankit Desai, Crista Walters, Amy Rosenberg, and Priya S. Kishnani. “High dose IVIG successfully reduces high rhGAA IgG antibody titers in a CRIM-negative infantile Pompe disease patient.” Mol Genet Metab 122, no. 1–2 (September 2017): 76–79. https://doi.org/10.1016/j.ymgme.2017.05.006.Full Text Link to Item
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Kazi, Zoheb B., Ankit K. Desai, Kathryn L. Berrier, R Bradley Troxler, Raymond Y. Wang, Omar A. Abdul-Rahman, Pranoot Tanpaiboon, et al. “Sustained immune tolerance induction in enzyme replacement therapy-treated CRIM-negative patients with infantile Pompe disease.” Jci Insight 2, no. 16 (August 17, 2017). https://doi.org/10.1172/jci.insight.94328.Full Text Link to Item
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Rofail, Diana, Daniel Froggatt, Rafael de la Torre, Jamie Edgin, Priya Kishnani, Renaud Touraine, Sarah Whitwham, Lisa Squassante, Omar Khwaja, and Xavier Liogier D’Ardhuy. “Health-Related Quality of Life in Individuals with Down Syndrome: Results from a Non-Interventional Longitudinal Multi-National Study.” Adv Ther 34, no. 8 (August 2017): 2058–69. https://doi.org/10.1007/s12325-017-0591-y.Full Text Link to Item
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Burton, Barbara K., David F. Kronn, Wuh-Liang Hwu, Priya S. Kishnani, and Priya S. Pompe Disease Newborn Screening Working Group. “The Initial Evaluation of Patients After Positive Newborn Screening: Recommended Algorithms Leading to a Confirmed Diagnosis of Pompe Disease.” Pediatrics 140, no. Suppl 1 (July 2017): S14–23. https://doi.org/10.1542/peds.2016-0280D.Full Text Link to Item
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Kishnani, Priya S., Wuh-Liang Hwu, and Wuh-Liang Pompe Disease Newborn Screening Working Group. “Introduction to the Newborn Screening, Diagnosis, and Treatment for Pompe Disease Guidance Supplement.” Pediatrics 140, no. Suppl 1 (July 2017): S1–3. https://doi.org/10.1542/peds.2016-0280B.Full Text Link to Item
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Kronn, David F., Debra Day-Salvatore, Wuh-Liang Hwu, Simon A. Jones, Kimitoshi Nakamura, Torayuki Okuyama, Kathryn J. Swoboda, Priya S. Kishnani, and Priya S. Pompe Disease Newborn Screening Working Group. “Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum.” Pediatrics 140, no. Suppl 1 (July 2017): S24–45. https://doi.org/10.1542/peds.2016-0280E.Full Text Link to Item
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Lavigne, Jenifer, Christianne Sharr, Ibrahim Elsharkawi, Al Ozonoff, Nicole Baumer, Campbell Brasington, Sheila Cannon, et al. “Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry study.” Am J Med Genet A 173, no. 6 (June 2017): 1539–45. https://doi.org/10.1002/ajmg.a.38219.Full Text Link to Item
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Spiridigliozzi, Gail A., Lori A. Keeling, Mihaela Stefanescu, Cindy Li, Stephanie Austin, and Priya S. Kishnani. “Cognitive and academic outcomes in long-term survivors of infantile-onset Pompe disease: A longitudinal follow-up.” Mol Genet Metab 121, no. 2 (June 2017): 127–37. https://doi.org/10.1016/j.ymgme.2017.04.014.Full Text Link to Item
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Kishnani, Priya, Mark Tarnopolsky, Mark Roberts, Kumarswamy Sivakumar, Majed Dasouki, Mazen M. Dimachkie, Erika Finanger, et al. “Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α.” Mol Ther 25, no. 5 (May 3, 2017): 1199–1208. https://doi.org/10.1016/j.ymthe.2017.02.017.Full Text Link to Item
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Yi, Haiqing, Tao Sun, Dustin Armstrong, Scott Borneman, Chunyu Yang, Stephanie Austin, Priya S. Kishnani, and Baodong Sun. “Antibody-mediated enzyme replacement therapy targeting both lysosomal and cytoplasmic glycogen in Pompe disease.” J Mol Med (Berl) 95, no. 5 (May 2017): 513–21. https://doi.org/10.1007/s00109-017-1505-9.Full Text Open Access Copy Link to Item
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Cox, Timothy M., Guillermo Drelichman, Renata Cravo, Manisha Balwani, Thomas Andrew Burrow, Ana Maria Martins, Elena Lukina, et al. “Eliglustat maintains long-term clinical stability in patients with Gaucher disease type 1 stabilized on enzyme therapy.” Blood 129, no. 17 (April 27, 2017): 2375–83. https://doi.org/10.1182/blood-2016-12-758409.Full Text Link to Item
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Chan, Justin, Ankit K. Desai, Zoheb B. Kazi, Kaitlyn Corey, Stephanie Austin, Lisa D. Hobson-Webb, Laura E. Case, Harrison N. Jones, and Priya S. Kishnani. “The emerging phenotype of late-onset Pompe disease: A systematic literature review.” Mol Genet Metab 120, no. 3 (March 2017): 163–72. https://doi.org/10.1016/j.ymgme.2016.12.004.Full Text Link to Item
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Yi, Haiqing, Quan Zhang, Elizabeth D. Brooks, Chunyu Yang, Beth L. Thurberg, Priya S. Kishnani, and Baodong Sun. “Systemic Correction of Murine Glycogen Storage Disease Type IV by an AAV-Mediated Gene Therapy.” Hum Gene Ther 28, no. 3 (March 2017): 286–94. https://doi.org/10.1089/hum.2016.099.Full Text Open Access Copy Link to Item
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Austin, Stephanie L., Andrew Chiou, Baodong Sun, Laura E. Case, Kenny Govendrageloo, Perrin Hansen, and Priya S. Kishnani. “Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for a patient presenting with a PRKAG2 mutation.” Molecular Genetics and Metabolism 120, no. 1–2 (January 2017): 96–100. https://doi.org/10.1016/j.ymgme.2016.09.006.Full Text Open Access Copy
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Bali, Deeksha S., Jennifer L. Goldstein, Keri Fredrickson, Stephanie Austin, Surekha Pendyal, Catherine Rehder, and Priya S. Kishnani. “Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency.” Jimd Rep 37 (2017): 63–72. https://doi.org/10.1007/8904_2017_8.Full Text Link to Item
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Mori, Mari, Lauren A. Bailey, Januario Estrada, Catherine W. Rehder, Jennifer S. Li, Joseph G. Rogers, Deeksha S. Bali, Anne F. Buckley, and Priya S. Kishnani. “Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report.” Jimd Rep 31 (2017): 79–83. https://doi.org/10.1007/8904_2016_563.Full Text Link to Item
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Torok, R. D., S. L. Austin, L. K. Britt, J. E. Abdenur, P. S. Kishnani, and S. B. Wechsler. “Pulmonary arterial hypertension in glycogen storage disease type I.” Journal of Inborn Errors of Metabolism and Screening 5 (January 1, 2017). https://doi.org/10.1177/2326409817707773.Full Text
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Mori, Mari, Stephanie L. DeArmey, Thomas J. Weber, and Priya S. Kishnani. “Case series: Odontohypophosphatasia or missed diagnosis of childhood/adult-onset hypophosphatasia? - Call for a long-term follow-up of premature loss of primary teeth.” Bone Rep 5 (December 2016): 228–32. https://doi.org/10.1016/j.bonr.2016.08.004.Full Text Link to Item
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Sharr, Christianne, Jenifer Lavigne, Ibrahim M. A. Elsharkawi, Al Ozonoff, Nicole Baumer, Campbell Brasington, Sheila Cannon, et al. “Detecting celiac disease in patients with Down syndrome.” Am J Med Genet A 170, no. 12 (December 2016): 3098–3105. https://doi.org/10.1002/ajmg.a.37879.Full Text Link to Item
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Yi, Haiqing, Fengqin Gao, Stephanie Austin, Priya S. Kishnani, and Baodong Sun. “Alglucosidase alfa treatment alleviates liver disease in a mouse model of glycogen storage disease type IV.” Mol Genet Metab Rep 9 (December 2016): 31–33. https://doi.org/10.1016/j.ymgmr.2016.09.008.Full Text Open Access Copy Link to Item
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Weber, Thomas J., Eileen K. Sawyer, Scott Moseley, Tatjana Odrljin, and Priya S. Kishnani. “Burden of disease in adult patients with hypophosphatasia: Results from two patient-reported surveys.” Metabolism 65, no. 10 (October 2016): 1522–30. https://doi.org/10.1016/j.metabol.2016.07.006.Full Text Link to Item
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Bentler, Kristi, Shaohui Zhai, Sara A. Elsbecker, Georgianne L. Arnold, Barbara K. Burton, Jerry Vockley, Cynthia A. Cameron, et al. “221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.” Mol Genet Metab 119, no. 1–2 (September 2016): 75–82. https://doi.org/10.1016/j.ymgme.2016.07.002.Full Text Link to Item
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Phillips, Dawn, Laura E. Case, Donna Griffin, Kim Hamilton, Sergio Lerma Lara, Beth Leiro, Jessica Monfreda, Elaine Westlake, and Priya S. Kishnani. “Physical therapy management of infants and children with hypophosphatasia.” Mol Genet Metab 119, no. 1–2 (September 2016): 14–19. https://doi.org/10.1016/j.ymgme.2016.06.010.Full Text Link to Item
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Sun, Tao, Haiqing Yi, Chunyu Yang, Priya S. Kishnani, and Baodong Sun. “Starch Binding Domain-containing Protein 1 Plays a Dominant Role in Glycogen Transport to Lysosomes in Liver.” J Biol Chem 291, no. 32 (August 5, 2016): 16479–84. https://doi.org/10.1074/jbc.C116.741397.Full Text Open Access Copy Link to Item
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Kazi, Zoheb B., Sean N. Prater, Joyce A. Kobori, David Viskochil, Carrie Bailey, Renuka Gera, David W. Stockton, Paul McIntosh, Amy S. Rosenberg, and Priya S. Kishnani. “Durable and sustained immune tolerance to ERT in Pompe disease with entrenched immune responses.” Jci Insight 1, no. 11 (July 21, 2016). https://doi.org/10.1172/jci.insight.86821.Full Text Link to Item
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Kansagra, Sujay, Stephanie Austin, Stephanie DeArmey, Dwight Koeberl, and Priya S. Kishnani. “Death from supine asphyxia in late onset pompe disease: Two patients.” Am J Med Genet A 170, no. 7 (July 2016): 1928–29. https://doi.org/10.1002/ajmg.a.37687.Full Text Link to Item
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Champaigne, Neena L., Jules G. Leroy, Priya S. Kishnani, Jochen Decaestecker, Edwin Steenkiste, Alka Chaubey, Jiarui Li, et al. “New observation of sialuria prompts detection of liver tumor in previously reported patient.” Mol Genet Metab 118, no. 2 (June 2016): 92–99. https://doi.org/10.1016/j.ymgme.2016.04.004.Full Text Link to Item
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Spiridigliozzi, Gail A., Sarah J. Hart, James H. Heller, Heather E. Schneider, Jane Ann Baker, Cathleen Weadon, George T. Capone, and Priya S. Kishnani. “Safety and efficacy of rivastigmine in children with Down syndrome: A double blind placebo controlled trial.” Am J Med Genet A 170, no. 6 (June 2016): 1545–55. https://doi.org/10.1002/ajmg.a.37650.Full Text Link to Item
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Rosenberg, A. S., A. R. Pariser, B. Diamond, L. Yao, L. A. Turka, E. Lacana, and P. S. Kishnani. “A role for plasma cell targeting agents in immune tolerance induction in autoimmune disease and antibody responses to therapeutic proteins.” Clin Immunol 165 (April 2016): 55–59. https://doi.org/10.1016/j.clim.2016.02.009.Full Text Link to Item
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Balwani, Manisha, Thomas Andrew Burrow, Joel Charrow, Ozlem Goker-Alpan, Paige Kaplan, Priya S. Kishnani, Pramod Mistry, Jeremy Ruskin, and Neal Weinreb. “Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States.” Mol Genet Metab 117, no. 2 (February 2016): 95–103. https://doi.org/10.1016/j.ymgme.2015.09.002.Full Text Link to Item
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Brooks, Elizabeth D., Haiqing Yi, Stephanie L. Austin, Beth L. Thurberg, Sarah P. Young, John C. Fyfe, Priya S. Kishnani, and Baodong Sun. “Natural Progression of Canine Glycogen Storage Disease Type IIIa.” Comp Med 66, no. 1 (February 2016): 41–51.Open Access Copy Link to Item
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Han, Sang-Oh, Rand Pope, Songtao Li, Priya S. Kishnani, Richard Steet, and Dwight D. Koeberl. “A beta-blocker, propranolol, decreases the efficacy from enzyme replacement therapy in Pompe disease.” Mol Genet Metab 117, no. 2 (February 2016): 114–19. https://doi.org/10.1016/j.ymgme.2015.09.012.Full Text Link to Item
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Jones, Harrison N., Kelly D. Crisp, Randall R. Robey, Laura E. Case, Richard M. Kravitz, and Priya S. Kishnani. “Respiratory muscle training (RMT) in late-onset Pompe disease (LOPD): Effects of training and detraining.” Mol Genet Metab 117, no. 2 (February 2016): 120–28. https://doi.org/10.1016/j.ymgme.2015.09.003.Full Text Link to Item
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Kishnani, Priya S., Patricia I. Dickson, Laurie Muldowney, Jessica J. Lee, Amy Rosenberg, Rekha Abichandani, Jeffrey A. Bluestone, et al. “Immune response to enzyme replacement therapies in lysosomal storage diseases and the role of immune tolerance induction.” Mol Genet Metab 117, no. 2 (February 2016): 66–83. https://doi.org/10.1016/j.ymgme.2015.11.001.Full Text Link to Item
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Lévesque, Sébastien, Christiane Auray-Blais, Elaine Gravel, Michel Boutin, Laura Dempsey-Nunez, Pierre-Etienne Jacques, Sébastien Chenier, et al. “Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing.” Orphanet J Rare Dis 11 (January 25, 2016): 8. https://doi.org/10.1186/s13023-016-0390-6.Full Text Link to Item
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Ajay, Divya, Erin R. McNamara, Stephanie Austin, John S. Wiener, and Priya Kishnani. “Lower Urinary Tract Symptoms and Incontinence in Children with Pompe Disease.” Jimd Rep 28 (2016): 59–67. https://doi.org/10.1007/8904_2015_492.Full Text Link to Item
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Yi, Haiqing, Quan Zhang, Chunyu Yang, Priya S. Kishnani, and Baodong Sun. “A Modified Enzymatic Method for Measurement of Glycogen Content in Glycogen Storage Disease Type IV.” Jimd Rep 30 (2016): 89–94. https://doi.org/10.1007/8904_2015_522.Full Text Open Access Copy Link to Item
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Bali, Deeksha S., Jennifer L. Goldstein, Catherine Rehder, Zoheb B. Kazi, Kathryn L. Berrier, Jian Dai, and Priya S. Kishnani. “Clinical Laboratory Experience of Blood CRIM Testing in Infantile Pompe Disease.” Mol Genet Metab Rep 5 (December 1, 2015): 76–79. https://doi.org/10.1016/j.ymgmr.2015.10.012.Full Text Link to Item
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Berrier, Kathryn L., Zoheb B. Kazi, Sean N. Prater, Deeksha S. Bali, Jennifer Goldstein, Mihaela C. Stefanescu, Catherine W. Rehder, et al. “CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy.” Genet Med 17, no. 11 (November 2015): 912–18. https://doi.org/10.1038/gim.2015.6.Full Text Link to Item
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Lavigne, Jenifer, Christianne Sharr, Al Ozonoff, Lisa Albers Prock, Nicole Baumer, Campbell Brasington, Sheila Cannon, et al. “National down syndrome patient database: Insights from the development of a multi-center registry study.” Am J Med Genet A 167A, no. 11 (November 2015): 2520–26. https://doi.org/10.1002/ajmg.a.37267.Full Text Link to Item
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McIntosh, Paul T., Laura E. Case, Justin M. Chan, Stephanie L. Austin, and Priya Kishnani. “Characterization of gait in late onset Pompe disease.” Mol Genet Metab 116, no. 3 (November 2015): 152–56. https://doi.org/10.1016/j.ymgme.2015.09.001.Full Text Link to Item
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Weber, Thomas J., Eileen K. Sawyer, Scott Moseley, and Priya S. Kishnani. “Diminished Health-Related Quality of Life As Measured By the Short Form-10 in Children with Hypophosphatasia.” Arthritis & Rheumatology 67 (October 1, 2015).Link to Item
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Stenger, Elizabeth O., Zoheb Kazi, Emily Lisi, Michael J. Gambello, and Priya Kishnani. “Immune Tolerance Strategies in Siblings with Infantile Pompe Disease-Advantages for a Preemptive Approach to High-Sustained Antibody Titers.” Mol Genet Metab Rep 4 (September 1, 2015): 30–34. https://doi.org/10.1016/j.ymgmr.2015.05.004.Full Text Link to Item
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Halldorson, J., Z. Kazi, K. Mekeel, A. Kuo, T. Hassanein, R. Loomba, S. Austin, M. A. Valasek, P. Kishnani, and A. W. Hemming. “Successful combined liver/kidney transplantation from a donor with Pompe disease.” Mol Genet Metab 115, no. 4 (August 2015): 141–44. https://doi.org/10.1016/j.ymgme.2015.05.007.Full Text Link to Item
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Worley, Gordon, Blythe G. Crissman, Emily Cadogan, Christie Milleson, Deanna W. Adkins, and Priya S. Kishnani. “Down Syndrome Disintegrative Disorder: New-Onset Autistic Regression, Dementia, and Insomnia in Older Children and Adolescents With Down Syndrome.” J Child Neurol 30, no. 9 (August 2015): 1147–52. https://doi.org/10.1177/0883073814554654.Full Text Link to Item
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Berrier, Kathryn L., Zoheb B. Kazi, Sean N. Prater, Deeksha S. Bali, Jennifer Goldstein, Mihaela C. Stefanescu, Catherine W. Rehder, et al. “CORRIGENDUM: CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy.” Genet Med 17, no. 7 (July 2015): 596. https://doi.org/10.1038/gim.2015.57.Full Text Link to Item
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Horvath, Jeffrey J., Stephanie L. Austin, Laura E. Case, Karla B. Greene, Harrison N. Jones, Brian J. Soher, Priya S. Kishnani, and Mustafa R. Bashir. “Correlation between quantitative whole-body muscle magnetic resonance imaging and clinical muscle weakness in Pompe disease.” Muscle Nerve 51, no. 5 (May 2015): 722–30. https://doi.org/10.1002/mus.24437.Full Text Link to Item
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Jones, Harrison N., Kelly D. Crisp, Priyanka Asrani, Richard Sloane, and Priya S. Kishnani. “Quantitative assessment of lingual strength in late-onset Pompe disease.” Muscle Nerve 51, no. 5 (May 2015): 731–35. https://doi.org/10.1002/mus.24523.Full Text Link to Item
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Hobson-Webb, Lisa D., Stephanie L. Austin, Sneha Jain, Laura E. Case, Karla Greene, and Priya S. Kishnani. “Small-fiber neuropathy in pompe disease: first reported cases and prospective screening of a clinic cohort.” Am J Case Rep 16 (April 3, 2015): 196–201. https://doi.org/10.12659/AJCR.893309.Full Text Open Access Copy Link to Item
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Case, Laura E., Carl Bjartmar, Claire Morgan, Robin Casey, Joel Charrow, John P. Clancy, Majed Dasouki, et al. “Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease.” Neuromuscul Disord 25, no. 4 (April 2015): 321–32. https://doi.org/10.1016/j.nmd.2014.12.004.Full Text Link to Item
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Kansagra, Sujay, Stephanie Austin, Stephanie DeArmey, Zoheb Kazi, Richard M. Kravitz, and Priya S. Kishnani. “Longitudinal polysomnographic findings in infantile Pompe disease.” Am J Med Genet A 167A, no. 4 (April 2015): 858–61. https://doi.org/10.1002/ajmg.a.37007.Full Text Link to Item
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Tan, Queenie K-G, David W. Stockton, Eniko Pivnick, Asim F. Choudhri, Stacy Hines-Dowell, Loren D. M. Pena, Melissa A. Deimling, Michael S. Freemark, and Priya S. Kishnani. “Premature pubarche in children with Pompe disease.” J Pediatr 166, no. 4 (April 2015): 1075-8.e1. https://doi.org/10.1016/j.jpeds.2014.12.074.Full Text Link to Item
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Raval, Kunil K., Ran Tao, Brent E. White, Willem J. De Lange, Chad H. Koonce, Junying Yu, Priya S. Kishnani, et al. “Pompe disease results in a Golgi-based glycosylation deficit in human induced pluripotent stem cell-derived cardiomyocytes.” J Biol Chem 290, no. 5 (January 30, 2015): 3121–36. https://doi.org/10.1074/jbc.M114.628628.Full Text Link to Item
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Berrier, Kathryn L., Zoheb B. Kazi, Sean N. Prater, Deeksha S. Bali, Jennifer Goldstein, Mihaela C. Stefanescu, Catherine W. Rehder, et al. “CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy.” Genetics in Medicine 17, no. 11 (2015): 912–18. https://doi.org/10.1038/gim.2015.6.Full Text Link to Item
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Chien, Yin-Hsiu, Ans van der Ploeg, Simon Jones, Barry Byrne, Ashok Vellodi, Nancy Leslie, Eugen Mengel, et al. “Survival and Developmental Milestones Among Pompe Registry Patients with Classic Infantile-Onset Pompe Disease with Different Timing of Initiation of Treatment with Enzyme Replacement Therapy.” J Neuromuscul Dis 2, no. s1 (2015): S61–62.Link to Item
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Kishnani, P. S. “Challenges of enzyme replacement therapy: Poor tissue distribution in lysosomal diseases using pompe disease as a model.” Aaps Advances in the Pharmaceutical Sciences Series 19 (January 1, 2015): 9–21. https://doi.org/10.1007/978-1-4939-2543-8_2.Full Text
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Kishnani, Priya S., Zoheb B. Kazi, Kathryn L. Berrier, Stephanie M. Dearmey, Deeksha S. Bali, and Amy S. Rosenberg. “Immunological Factors in Pompe Disease Management: Clinical Experience and Implications for Newborn Screening.” J Neuromuscul Dis 2, no. s1 (2015): S7.Link to Item
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Liogier d’Ardhuy, Xavier, Jamie O. Edgin, Charles Bouis, Susana de Sola, Celia Goeldner, Priya Kishnani, Jana Nöldeke, et al. “Assessment of Cognitive Scales to Examine Memory, Executive Function and Language in Individuals with Down Syndrome: Implications of a 6-month Observational Study.” Front Behav Neurosci 9 (2015): 300. https://doi.org/10.3389/fnbeh.2015.00300.Full Text Link to Item
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McNamara, Erin R., Jennifer Sullivan, Shashi K. Nagaraj, John S. Wiener, and Priya S. Kishnani. “Neurogenic bladder dysfunction presenting as urinary retention in neuronopathic Gaucher disease.” Jimd Rep 15 (2015): 67–70. https://doi.org/10.1007/8904_2014_299.Full Text Link to Item
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McNamara, Erin R., Stephanie Austin, Laura Case, John S. Wiener, Andrew C. Peterson, and Priya S. Kishnani. “Expanding our understanding of lower urinary tract symptoms and incontinence in adults with pompe disease.” Jimd Rep 20 (2015): 5–10. https://doi.org/10.1007/8904_2014_381.Full Text Link to Item
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Pena, Loren D. M., Alan D. Proia, and Priya S. Kishnani. “Postmortem Findings and Clinical Correlates in Individuals with Infantile-Onset Pompe Disease.” Jimd Rep 23 (2015): 45–54. https://doi.org/10.1007/8904_2015_426.Full Text Link to Item
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Kishnani, Priya S., Stephanie L. Austin, Jose E. Abdenur, Pamela Arn, Deeksha S. Bali, Anne Boney, Wendy K. Chung, et al. “Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics.” Genet Med 16, no. 11 (November 2014): e1. https://doi.org/10.1038/gim.2014.128.Full Text Link to Item
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Kishnani, Priya S., and Alexandra A. Beckemeyer. “New therapeutic approaches for Pompe disease: enzyme replacement therapy and beyond.” Pediatr Endocrinol Rev 12 Suppl 1 (September 2014): 114–24.Link to Item
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Chiu, Li-Ya, Priya S. Kishnani, Tzu-Po Chuang, Cheng-Yang Tang, Cheng-Yuan Liu, Deeksha Bali, Dwight Koeberl, et al. “Identification of differentially expressed microRNAs in human hepatocellular adenoma associated with type I glycogen storage disease: a potential utility as biomarkers.” J Gastroenterol 49, no. 8 (August 2014): 1274–84. https://doi.org/10.1007/s00535-013-0890-2.Full Text Link to Item
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Yi, Haiqing, Elizabeth D. Brooks, Beth L. Thurberg, John C. Fyfe, Priya S. Kishnani, and Baodong Sun. “Correction of glycogen storage disease type III with rapamycin in a canine model.” J Mol Med (Berl) 92, no. 6 (June 2014): 641–50. https://doi.org/10.1007/s00109-014-1127-4.Full Text Open Access Copy Link to Item
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Goldstein, Jennifer L., Gwen Dickerson, Priya S. Kishnani, Catherine Rehder, and Deeksha S. Bali. “Blood-based diagnostic testing for Pompe disease: consistency between GAA enzyme activity in dried blood spots and GAA gene sequencing results.” Muscle Nerve 49, no. 5 (May 2014): 775–76. https://doi.org/10.1002/mus.24149.Full Text Link to Item
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Koeberl, Dwight D., Stephanie Austin, Laura E. Case, Edward C. Smith, Anne F. Buckley, Sarah P. Young, Deeksha Bali, and Priya S. Kishnani. “Adjunctive albuterol enhances the response to enzyme replacement therapy in late-onset Pompe disease.” Faseb J 28, no. 5 (May 2014): 2171–76. https://doi.org/10.1096/fj.13-241893.Full Text Open Access Copy Link to Item
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Mazariegos, George, Benjamin Shneider, Barbara Burton, Ira J. Fox, Nedim Hadzic, Priya Kishnani, D Holmes Morton, et al. “Liver transplantation for pediatric metabolic disease.” Mol Genet Metab 111, no. 4 (April 2014): 418–27. https://doi.org/10.1016/j.ymgme.2014.01.006.Full Text Link to Item
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Bali, Deeksha S., Jennifer L. Goldstein, Keri Fredrickson, Catherine Rehder, Anne Boney, Stephanie Austin, David A. Weinstein, Richard Lutz, Avihu Boneh, and Priya S. Kishnani. “Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.” Mol Genet Metab 111, no. 3 (March 2014): 309–13. https://doi.org/10.1016/j.ymgme.2013.12.008.Full Text Link to Item
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Feeney, Erin J., Stephanie Austin, Yin-Hsiu Chien, Hanna Mandel, Benedikt Schoser, Sean Prater, Wuh-Liang Hwu, Evelyn Ralston, Priya S. Kishnani, and Nina Raben. “The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients.” Acta Neuropathol Commun 2 (January 2, 2014): 2. https://doi.org/10.1186/2051-5960-2-2.Full Text Link to Item
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Jones, Harrison N., Kelly D. Crisp, Tronda Moss, Katherine Strollo, Randy Robey, Jeffrey Sank, Michelle Canfield, et al. “Effects of respiratory muscle training (RMT) in children with infantile-onset Pompe disease and respiratory muscle weakness.” J Pediatr Rehabil Med 7, no. 3 (2014): 255–65. https://doi.org/10.3233/PRM-140294.Full Text Link to Item
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Kishnani, Priya S., Hernán M. Amartino, Christopher Lindberg, Timothy M. Miller, Amanda Wilson, and Joan Keutzer. “Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry.” Mol Genet Metab 113, no. 1–2 (2014): 84–91. https://doi.org/10.1016/j.ymgme.2014.07.014.Full Text Link to Item
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Prakalapakorn, S Grace, Alan D. Proia, Tammy L. Yanovitch, Stephanie DeArmey, Nancy J. Mendelsohn, Kyrieckos A. Aleck, and Priya S. Kishnani. “Ocular and histologic findings in a series of children with infantile pompe disease treated with enzyme replacement therapy.” J Pediatr Ophthalmol Strabismus 51, no. 6 (2014): 355–62. https://doi.org/10.3928/01913913-20140813-01.Full Text Link to Item
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Prasun, P., L. A. Bailey, and P. S. Kishnani. “Right frontal lobe encephalomalacia in an adult propionic acidemia patient with neuropsychiatric manifestations.” Molecular Genetics and Metabolism Reports 1 (January 1, 2014): 412–13. https://doi.org/10.1016/j.ymgmr.2014.08.007.Full Text
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Prater, Sean N., Suhrad G. Banugaria, Claire Morgan, Crystal C. Sung, Amy S. Rosenberg, and Priya S. Kishnani. “Letter to the Editors: Concerning "CRIM-negative Pompe disease patients with satisfactory clinical outcomes on enzyme replacement therapy" by Al Khallaf et al.” J Inherit Metab Dis 37, no. 1 (January 2014): 141–43. https://doi.org/10.1007/s10545-013-9637-8.Full Text Link to Item
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Sun, Baodong, Suhrad G. Banugaria, Sean N. Prater, Trusha T. Patel, Keri Fredrickson, Douglas J. Ringler, Antonin de Fougerolles, Amy S. Rosenberg, Herman Waldmann, and Priya S. Kishnani. “Non-depleting anti-CD4 monoclonal antibody induces immune tolerance to ERT in a murine model of Pompe disease.” Mol Genet Metab Rep 1 (2014): 446–50. https://doi.org/10.1016/j.ymgmr.2014.08.005.Full Text Open Access Copy Link to Item
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Austin, Stephanie L., Areeg H. El-Gharbawy, Vellore G. Kasturi, Andra James, and Priya S. Kishnani. “Menorrhagia in patients with type I glycogen storage disease.” Obstet Gynecol 122, no. 6 (December 2013): 1246–54. https://doi.org/10.1097/01.AOG.0000435451.86108.82.Full Text Link to Item
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Kansagra, Sujay, Stephanie Austin, Stephanie DeArmey, Priya S. Kishnani, and Richard M. Kravitz. “Polysomnographic findings in infantile Pompe disease.” Am J Med Genet A 161A, no. 12 (December 2013): 3196–3200. https://doi.org/10.1002/ajmg.a.36227.Full Text Link to Item
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Kishnani, Priya S., Hernán M. Amartino, Christopher Lindberg, Timothy M. Miller, Amanda Wilson, Joan Keutzer, and Joan Pompe Registry Boards of Advisors. “Timing of diagnosis of patients with Pompe disease: data from the Pompe registry.” Am J Med Genet A 161A, no. 10 (October 2013): 2431–43. https://doi.org/10.1002/ajmg.a.36110.Full Text Link to Item
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Kishnani, P. S., and Y. T. Chen. “Disorders of carbohydrate metabolism,” August 29, 2013, 1–36. https://doi.org/10.1016/B978-0-12-383834-6.00097-5.Full Text
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Javan, Ramin, Jeffrey J. Horvath, Laura E. Case, Stephanie Austin, Jose Corderi, Alberto Dubrovsky, Priya S. Kishnani, and Mustafa R. Bashir. “Generating color-coded anatomic muscle maps for correlation of quantitative magnetic resonance imaging analysis with clinical examination in neuromuscular disorders.” Muscle Nerve 48, no. 2 (August 2013): 293–95. https://doi.org/10.1002/mus.23780.Full Text Link to Item
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Yi, Haiqing, Keri B. Fredrickson, Stuti Das, Priya S. Kishnani, and Baodong Sun. “Stbd1 is highly elevated in skeletal muscle of Pompe disease mice but suppression of its expression does not affect lysosomal glycogen accumulation.” Mol Genet Metab 109, no. 3 (July 2013): 312–14. https://doi.org/10.1016/j.ymgme.2013.05.004.Full Text Open Access Copy Link to Item
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“Corrigendum.” American Journal of Hematology 88, no. 7 (July 2013): 632–632. https://doi.org/10.1002/ajh.23505.Full Text
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Prater, Sean N., Trusha T. Patel, Anne F. Buckley, Hanna Mandel, Eugene Vlodavski, Suhrad G. Banugaria, Erin J. Feeney, Nina Raben, and Priya S. Kishnani. “Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy.” Orphanet J Rare Dis 8 (June 20, 2013): 90. https://doi.org/10.1186/1750-1172-8-90.Full Text Open Access Copy Link to Item
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Brooks, Elizabeth Drake, Dianne Little, Ramamani Arumugam, Baodong Sun, Sarah Curtis, Amanda Demaster, Michael Maranzano, et al. “Pathogenesis of growth failure and partial reversal with gene therapy in murine and canine Glycogen Storage Disease type Ia.” Mol Genet Metab 109, no. 2 (June 2013): 161–70. https://doi.org/10.1016/j.ymgme.2013.03.018.Full Text Open Access Copy Link to Item
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Hobson-Webb, Lisa D., Harrison N. Jones, and Priya S. Kishnani. “Oropharyngeal dysphagia may occur in late-onset Pompe disease, implicating bulbar muscle involvement.” Neuromuscul Disord 23, no. 4 (April 2013): 319–23. https://doi.org/10.1016/j.nmd.2012.12.003.Full Text Link to Item
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Patel, Trusha T., Suhrad G. Banugaria, Donald P. Frush, David S. Enterline, Pranoot Tanpaiboon, and Priya S. Kishnani. “Basilar artery aneurysm: a new finding in classic infantile Pompe disease.” Muscle Nerve 47, no. 4 (April 2013): 613–15. https://doi.org/10.1002/mus.23659.Full Text Link to Item
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Spiridigliozzi, Gail A., James H. Heller, Priya S. Kishnani, Ans T. Van der Ploeg, B. J. Ebbink, F. K. Aarsen, C. M. van Gelder, and J. M. P. Van den Hout. “Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy.” Neurology 80, no. 12 (March 19, 2013): 1173. https://doi.org/10.1212/WNL.0b013e31828b8af0.Full Text Link to Item
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Ben Turkia, Hadhami, Derlis E. Gonzalez, Norman W. Barton, Ari Zimran, Madhulika Kabra, Elena A. Lukina, Pilar Giraldo, et al. “Velaglucerase alfa enzyme replacement therapy compared with imiglucerase in patients with Gaucher disease.” Am J Hematol 88, no. 3 (March 2013): 179–84. https://doi.org/10.1002/ajh.23382.Full Text Link to Item
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Banugaria, Suhrad G., Sean N. Prater, Judeth K. McGann, Jonathan D. Feldman, Jesse A. Tannenbaum, Carrie Bailey, Renuka Gera, et al. “Bortezomib in the rapid reduction of high sustained antibody titers in disorders treated with therapeutic protein: lessons learned from Pompe disease.” Genet Med 15, no. 2 (February 2013): 123–31. https://doi.org/10.1038/gim.2012.110.Full Text Link to Item
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Beckemeyer, Alexandra A., Nancy J. Mendelsohn, and Priya S. Kishnani. “Response to the letter "How to describe the clinical spectrum in Pompe disease?".” Am J Med Genet A 161A, no. 2 (February 2013): 401–2. https://doi.org/10.1002/ajmg.a.35668.Full Text Link to Item
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Sun, Baodong, Keri Fredrickson, Stephanie Austin, Adviye A. Tolun, Beth L. Thurberg, William E. Kraus, Deeksha Bali, Yuan-Tsong Chen, and Priya S. Kishnani. “Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III.” Mol Genet Metab 108, no. 2 (February 2013): 145–47. https://doi.org/10.1016/j.ymgme.2012.12.002.Full Text Open Access Copy Link to Item
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Tan, Queenie K-G, Sue Mei Cheah, Stephanie M. Dearmey, and Priya S. Kishnani. “Low anal sphincter tone in infantile-onset Pompe Disease: an emerging clinical issue in enzyme replacement therapy patients requiring special attention.” Mol Genet Metab 108, no. 2 (February 2013): 142–44. https://doi.org/10.1016/j.ymgme.2012.11.013.Full Text Link to Item
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Banugaria, Suhrad G., Sean N. Prater, Trusha T. Patel, Stephanie M. Dearmey, Christie Milleson, Kathryn B. Sheets, Deeksha S. Bali, et al. “Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile pompe disease: a step towards improving the efficacy of ERT.” Plos One 8, no. 6 (2013): e67052. https://doi.org/10.1371/journal.pone.0067052.Full Text Open Access Copy Link to Item
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Taylor, Kristin M., Elizabeth Meyers, Michael Phipps, Priya S. Kishnani, Seng H. Cheng, Ronald K. Scheule, and Rodney J. Moreland. “Dysregulation of multiple facets of glycogen metabolism in a murine model of Pompe disease.” Plos One 8, no. 2 (2013): e56181. https://doi.org/10.1371/journal.pone.0056181.Full Text Link to Item
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Tolun, Adviye A., Peter M. Scarbrough, Haoyue Zhang, Jane-Ann McKillop, Frances Wang, Priya S. Kishnani, David S. Millington, Sarah P. Young, and Dora Il’yasova. “Systemic oxidative stress, as measured by urinary allantoin and F(2)-isoprostanes, is not increased in Down syndrome.” Ann Epidemiol 22, no. 12 (December 2012): 892–94. https://doi.org/10.1016/j.annepidem.2012.09.005.Full Text Link to Item
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Horvath, Jeffrey J., Stephanie L. Austin, Harrison N. Jones, Elizabeth J. Drake, Laura E. Case, Brian J. Soher, Mustafa R. Bashir, and Priya S. Kishnani. “Bulbar muscle weakness and fatty lingual infiltration in glycogen storage disorder type IIIa.” Mol Genet Metab 107, no. 3 (November 2012): 496–500. https://doi.org/10.1016/j.ymgme.2012.09.025.Full Text Link to Item
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Ploeg, Ans T. van der, Richard Barohn, Lisa Carlson, Joel Charrow, Paula R. Clemens, Robert J. Hopkin, Priya S. Kishnani, et al. “Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa.” Mol Genet Metab 107, no. 3 (November 2012): 456–61. https://doi.org/10.1016/j.ymgme.2012.09.015.Full Text Link to Item
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Yi, Haiqing, Beth L. Thurberg, Sarah Curtis, Stephanie Austin, John Fyfe, Dwight D. Koeberl, Priya S. Kishnani, and Baodong Sun. “Characterization of a canine model of glycogen storage disease type IIIa.” Dis Model Mech 5, no. 6 (November 2012): 804–11. https://doi.org/10.1242/dmm.009712.Full Text Open Access Copy Link to Item
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Banugaria, S. G., T. T. Patel, and P. S. Kishnani. “To the Editor.” Molecular Genetics and Metabolism 107, no. 1–2 (September 1, 2012): 244. https://doi.org/10.1016/j.ymgme.2012.06.009.Full Text
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Prater, Sean N., Suhrad G. Banugaria, Stephanie M. DeArmey, Eleanor G. Botha, Erin M. Stege, Laura E. Case, Harrison N. Jones, et al. “The emerging phenotype of long-term survivors with infantile Pompe disease.” Genet Med 14, no. 9 (September 2012): 800–810. https://doi.org/10.1038/gim.2012.44.Full Text Link to Item
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Tsuboi, Kazuya, and Hiroshi Yamamoto. “Clinical observation of patients with Fabry disease after switching from agalsidase beta (Fabrazyme) to agalsidase alfa (Replagal).” Genet Med 14, no. 9 (September 2012): 779–86. https://doi.org/10.1038/gim.2012.81.Full Text Link to Item
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Wang, David Q., Caroline T. Carreras, Laurie M. Fiske, Stephanie Austin, Danielle Boree, Priya S. Kishnani, and David A. Weinstein. “Characterization and pathogenesis of anemia in glycogen storage disease type Ia and Ib.” Genet Med 14, no. 9 (September 2012): 795–99. https://doi.org/10.1038/gim.2012.41.Full Text Link to Item
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Banugaria, Suhrad G., Trusha T. Patel, and Priya S. Kishnani. “Immune modulation in Pompe disease treated with enzyme replacement therapy.” Expert Rev Clin Immunol 8, no. 6 (August 2012): 497–99. https://doi.org/10.1586/eci.12.40.Full Text Link to Item
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Hobson-Webb, Lisa D., Alan D. Proia, Beth L. Thurberg, Suhrad Banugaria, Sean N. Prater, and Priya S. Kishnani. “Autopsy findings in late-onset Pompe disease: a case report and systematic review of the literature.” Mol Genet Metab 106, no. 4 (August 2012): 462–69. https://doi.org/10.1016/j.ymgme.2012.05.007.Full Text Link to Item
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Wilson, Amanda B., Hernan M. Amartino, Christopher Lindberg, Timothy M. Miller, Joan Keutzer, and Priya S. Kishnani. “Characteristics Associated with Delays in Diagnosis of Pompe Disease among Patients Enrolled in the Pompe Registry.” Pharmacoepidemiology and Drug Safety 21 (August 1, 2012): 456–57.Link to Item
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Patel, Trusha T., Suhrad G. Banugaria, Laura E. Case, Stephan Wenninger, Benedikt Schoser, and Priya S. Kishnani. “The impact of antibodies in late-onset Pompe disease: a case series and literature review.” Mol Genet Metab 106, no. 3 (July 2012): 301–9. https://doi.org/10.1016/j.ymgme.2012.04.027.Full Text Link to Item
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Banugaria, Suhrad G., Trusha T. Patel, Joanne Mackey, Stuti Das, Andrea Amalfitano, Amy S. Rosenberg, Joel Charrow, Y. -. T. Chen, and Priya S. Kishnani. “Persistence of high sustained antibodies to enzyme replacement therapy despite extensive immunomodulatory therapy in an infant with Pompe disease: need for agents to target antibody-secreting plasma cells.” Mol Genet Metab 105, no. 4 (April 2012): 677–80. https://doi.org/10.1016/j.ymgme.2012.01.019.Full Text Link to Item
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Spiridigliozzi, Gail A., James H. Heller, Laura E. Case, Harrison N. Jones, and Priya S. Kishnani. “Early cognitive development in children with infantile Pompe disease.” Mol Genet Metab 105, no. 3 (March 2012): 428–32. https://doi.org/10.1016/j.ymgme.2011.10.012.Full Text Link to Item
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Bali, Deeksha S., Jennifer L. Goldstein, Suhrad Banugaria, Jian Dai, Joanne Mackey, Catherine Rehder, and Priya S. Kishnani. “Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience.” Am J Med Genet C Semin Med Genet 160C, no. 1 (February 15, 2012): 40–49. https://doi.org/10.1002/ajmg.c.31319.Full Text Link to Item
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Case, Laura E., Alexandra A. Beckemeyer, and Priya S. Kishnani. “Infantile Pompe disease on ERT: update on clinical presentation, musculoskeletal management, and exercise considerations.” Am J Med Genet C Semin Med Genet 160C, no. 1 (February 15, 2012): 69–79. https://doi.org/10.1002/ajmg.c.31321.Full Text Link to Item
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Case, Laura E., Alexandra A. Beckemeyer, and Priya S. Kishnani. “Infantile Pompe disease on ERTuUpdate on clinical presentation, musculoskeletal management, and exercise considerations.” American Journal of Medical Genetics Part C Seminars in Medical Genetics 160C, no. 1 (February 15, 2012): 69–79. https://doi.org/10.1002/ajmc.31321.Full Text Link to Item
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Kishnani, Priya S., Alexandra A. Beckemeyer, and Nancy J. Mendelsohn. “The new era of Pompe disease: advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management.” Am J Med Genet C Semin Med Genet 160C, no. 1 (February 15, 2012): 1–7. https://doi.org/10.1002/ajmg.c.31324.Full Text Link to Item
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Kishnani, Priya S., Alexandra A. Beckemeyer, and Nancy J. Mendelsohn. “The new era of Pompe disease: Advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management.” American Journal of Medical Genetics Part C Seminars in Medical Genetics 160C, no. 1 (February 15, 2012): 1–7. https://doi.org/10.1002/ajmc.31324.Full Text Link to Item
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Spiridigliozzi, Gail A., James H. Heller, and Priya S. Kishnani. “Cognitive and adaptive functioning of children with infantile Pompe disease treated with enzyme replacement therapy: long-term follow-up.” Am J Med Genet C Semin Med Genet 160C, no. 1 (February 15, 2012): 22–29. https://doi.org/10.1002/ajmg.c.31323.Full Text Link to Item
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Spiridigliozzi, Gail A., James H. Heller, and Priya S. Kishnani. “Cognitive and adaptive functioning of children with infantile Pompe disease treated with enzyme replacement therapy: Long-term follow-up.” American Journal of Medical Genetics Part C Seminars in Medical Genetics 160C, no. 1 (February 15, 2012): 22–29. https://doi.org/10.1002/ajmc.31323.Full Text Link to Item
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Young, Sarah P., Monique Piraud, Jennifer L. Goldstein, Haoyue Zhang, Catherine Rehder, Pascal Laforet, Priya S. Kishnani, David S. Millington, Mustafa R. Bashir, and Deeksha S. Bali. “Assessing disease severity in Pompe disease: the roles of a urinary glucose tetrasaccharide biomarker and imaging techniques.” Am J Med Genet C Semin Med Genet 160C, no. 1 (February 15, 2012): 50–58. https://doi.org/10.1002/ajmg.c.31320.Full Text Link to Item
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Hobson-Webb, Lisa D., and Priya S. Kishnani. “How common is misdiagnosis in late-onset Pompe disease?” Muscle Nerve 45, no. 2 (February 2012): 301–2. https://doi.org/10.1002/mus.22296.Full Text Link to Item
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Koeberl, Dwight D., Songtao Li, Jian Dai, Beth L. Thurberg, Deeksha Bali, and Priya S. Kishnani. “β2 Agonists enhance the efficacy of simultaneous enzyme replacement therapy in murine Pompe disease.” Mol Genet Metab 105, no. 2 (February 2012): 221–27. https://doi.org/10.1016/j.ymgme.2011.11.005.Full Text Link to Item
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Austin, S. L., A. D. Proia, M. J. Spencer-Manzon, J. Butany, S. B. Wechsler, and P. S. Kishnani. “Cardiac Pathology in Glycogen Storage Disease Type III.” Jimd Rep 6 (2012): 65–72. https://doi.org/10.1007/8904_2011_118.Full Text Link to Item
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Bashir, Mustafa R., Elmar M. Merkle, and Priya S. Kishnani. “Challenges in screening for hepatocellular carcinoma in the glycogen storage disease type 1a population.” Intern Med 51, no. 13 (2012): 1811. https://doi.org/10.2169/internalmedicine.51.6857.Full Text Link to Item
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Messinger, Yoav H., Nancy J. Mendelsohn, William Rhead, David Dimmock, Eli Hershkovitz, Michael Champion, Simon A. Jones, et al. “Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease.” Genet Med 14, no. 1 (January 2012): 135–42. https://doi.org/10.1038/gim.2011.4.Full Text Link to Item
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Abbott, Mary-Alice, Sean N. Prater, Suhrad G. Banugaria, Susan M. Richards, Sarah P. Young, Amy S. Rosenberg, and Priya S. Kishnani. “Atypical immunologic response in a patient with CRIM-negative Pompe disease.” Mol Genet Metab 104, no. 4 (December 2011): 583–86. https://doi.org/10.1016/j.ymgme.2011.08.003.Full Text Link to Item
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Achouitar, Samira, Jennifer L. Goldstein, Miski Mohamed, Stephanie Austin, Keri Boyette, Francoise M. Blanpain, Catherine W. Rehder, et al. “Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency.” Mol Genet Metab 104, no. 4 (December 2011): 691–94. https://doi.org/10.1016/j.ymgme.2011.08.021.Full Text Link to Item
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Dubrovsky, Alberto, Jose Corderi, Min Lin, Priya S. Kishnani, and Harrison N. Jones. “Expanding the phenotype of late-onset Pompe disease: tongue weakness: a new clinical observation.” Muscle Nerve 44, no. 6 (December 2011): 897–901. https://doi.org/10.1002/mus.22202.Full Text Link to Item
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Roberts, Mark, Priya S. Kishnani, Ans T. van der Ploeg, Wolfgang Müller-Felber, Luciano Merlini, Suyash Prasad, and Laura E. Case. “The prevalence and impact of scoliosis in Pompe disease: lessons learned from the Pompe Registry.” Mol Genet Metab 104, no. 4 (December 2011): 574–82. https://doi.org/10.1016/j.ymgme.2011.08.011.Full Text Link to Item
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Byrne, B. J., P. S. Kishnani, L. E. Case, L. Merlini, W. Müller-Felber, S. Prasad, and A. van der Ploeg. “Erratum to "Pompe disease: Design, methodology, and early findings from the Pompe Registry" [Mol. Genet. Metabol. 103 (2011) 1-11].” Molecular Genetics and Metabolism 104, no. 3 (November 1, 2011): 424. https://doi.org/10.1016/j.ymgme.2011.06.005.Full Text
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Hobson-Webb, Lisa D., Stephanie Dearmey, and Priya S. Kishnani. “The clinical and electrodiagnostic characteristics of Pompe disease with post-enzyme replacement therapy findings.” Clin Neurophysiol 122, no. 11 (November 2011): 2312–17. https://doi.org/10.1016/j.clinph.2011.04.016.Full Text Link to Item
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Jones, Harrison N., Tronda Moss, Laurie Edwards, and Priya S. Kishnani. “Increased inspiratory and expiratory muscle strength following respiratory muscle strength training (RMST) in two patients with late-onset Pompe disease.” Mol Genet Metab 104, no. 3 (November 2011): 417–20. https://doi.org/10.1016/j.ymgme.2011.05.006.Full Text Link to Item
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Nagral, A., P. Mewawalla, S. Jagadeesh, M. Kabra, S. R. Phadke, I. C. Verma, R. D. Puri, N. Gupta, P. S. Kishnani, and P. K. Mistry. “Recombinant macrophage targeted enzyme replacement therapy for Gaucher disease in India.” Indian Pediatr 48, no. 10 (October 2011): 779–84. https://doi.org/10.1007/s13312-011-0128-4.Full Text Link to Item
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Banugaria, Suhrad G., Sean N. Prater, Yiu-Ki Ng, Joyce A. Kobori, Richard S. Finkel, Roger L. Ladda, Yuan-Tsong Chen, Amy S. Rosenberg, and Priya S. Kishnani. “The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease.” Genet Med 13, no. 8 (August 2011): 729–36. https://doi.org/10.1097/GIM.0b013e3182174703.Full Text Link to Item
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El-Gharbawy, Areeg H., Gifty Bhat, Jaime E. Murillo, Beth L. Thurberg, Christoph Kampmann, Karl-Eugen Mengel, and Priya S. Kishnani. “Expanding the clinical spectrum of late-onset Pompe disease: dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered.” Mol Genet Metab 103, no. 4 (August 2011): 362–66. https://doi.org/10.1016/j.ymgme.2011.04.009.Full Text Link to Item
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Wilson, Amanda B., Priya S. Kishnani, Ans van der Ploeg, and Alexander Cole. “Selecting an Appropriate Comparison Group: Characterizing Treated and Untreated Patients in the Pompe Registry.” Pharmacoepidemiology and Drug Safety 20 (August 1, 2011): S176–S176.Link to Item
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Forsha, Daniel, Jennifer S. Li, P Brian Smith, Ans T. van der Ploeg, Priya Kishnani, Sara K. Pasquali, and Sara K. Late-Onset Treatment Study Investigators. “Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy.” Genet Med 13, no. 7 (July 2011): 625–31. https://doi.org/10.1097/GIM.0b013e3182142966.Full Text Link to Item
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Bali, Deeksha S., Adviye A. Tolun, Jennifer L. Goldstein, Jian Dai, and Priya S. Kishnani. “Molecular analysis and protein processing in late-onset Pompe disease patients with low levels of acid α-glucosidase activity.” Muscle Nerve 43, no. 5 (May 2011): 665–70. https://doi.org/10.1002/mus.21933.Full Text Link to Item
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Byrne, Barry J., Priya S. Kishnani, Laura E. Case, Luciano Merlini, Wolfgang Müller-Felber, Suyash Prasad, and Ans van der Ploeg. “Pompe disease: design, methodology, and early findings from the Pompe Registry.” Mol Genet Metab 103, no. 1 (May 2011): 1–11. https://doi.org/10.1016/j.ymgme.2011.02.004.Full Text Link to Item
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El-Gharbawy, Areeg H., Anne Boney, Sarah P. Young, and Priya S. Kishnani. “Follow-up of a child with pyruvate dehydrogenase deficiency on a less restrictive ketogenic diet.” Mol Genet Metab 102, no. 2 (February 2011): 214–15. https://doi.org/10.1016/j.ymgme.2010.11.001.Full Text Link to Item
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El-Gharbawy, Areeg H., Joanne Mackey, Stephanie DeArmey, Greg Westby, Sherry G. Grinnell, Peggy Malovrh, Robert Conway, and Priya S. Kishnani. “An individually, modified approach to desensitize infants and young children with Pompe disease, and significant reactions to alglucosidase alfa infusions.” Mol Genet Metab 104, no. 1–2 (2011): 118–22. https://doi.org/10.1016/j.ymgme.2011.07.004.Full Text Link to Item
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Barker, Piers C. A., Sara K. Pasquali, Stephen Darty, Richard J. Ing, Jennifer S. Li, Raymond J. Kim, Stephanie DeArmey, Priya S. Kishnani, and Michael J. Campbell. “Use of cardiac magnetic resonance imaging to evaluate cardiac structure, function and fibrosis in children with infantile Pompe disease on enzyme replacement therapy.” Mol Genet Metab 101, no. 4 (December 2010): 332–37. https://doi.org/10.1016/j.ymgme.2010.07.011.Full Text Link to Item
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Dixon, Natalia E., Blythe G. Crissman, P Brian Smith, Sherri A. Zimmerman, Gordon Worley, and Priya S. Kishnani. “Prevalence of iron deficiency in children with Down syndrome.” J Pediatr 157, no. 6 (December 2010): 967-971.e1. https://doi.org/10.1016/j.jpeds.2010.06.011.Full Text Link to Item
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Heller, James H., Gail A. Spiridigliozzi, Blythe G. Crissman, Jane Anne McKillop, Haru Yamamoto, and Priya S. Kishnani. “Safety and efficacy of rivastigmine in adolescents with Down syndrome: long-term follow-up.” J Child Adolesc Psychopharmacol 20, no. 6 (December 2010): 517–20. https://doi.org/10.1089/cap.2009.0099.Full Text Open Access Copy Link to Item
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Jones, Harrison N., Carolyn W. Muller, Min Lin, Suhrad G. Banugaria, Laura E. Case, Jennifer S. Li, Gwendolyn O’Grady, James H. Heller, and Priya S. Kishnani. “Oropharyngeal dysphagia in infants and children with infantile Pompe disease.” Dysphagia 25, no. 4 (December 2010): 277–83. https://doi.org/10.1007/s00455-009-9252-x.Full Text Link to Item
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Kishnani, Priya S., James H. Heller, Gail A. Spiridigliozzi, Ira Lott, Luis Escobar, Sharon Richardson, Richard Zhang, and Thomas McRae. “Donepezil for treatment of cognitive dysfunction in children with Down syndrome aged 10-17.” Am J Med Genet A 152A, no. 12 (December 2010): 3028–35. https://doi.org/10.1002/ajmg.a.33730.Full Text Link to Item
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Yanovitch, Tammy, David K. Wallace, Sharon F. Freedman, Laura B. Enyedi, Priya Kishnani, Gordon Worley, Blythe Crissman, Erica Burner, and Terri L. Young. “The accuracy of photoscreening at detecting treatable ocular conditions in children with Down syndrome.” J Aapos 14, no. 6 (December 2010): 472–77. https://doi.org/10.1016/j.jaapos.2010.09.016.Full Text Link to Item
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Goldstein, Jennifer L., Stephanie L. Austin, Keri Boyette, Angela Kanaly, Aravind Veerapandiyan, Catherine Rehder, Priya S. Kishnani, and Deeksha S. Bali. “Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III.” Genet Med 12, no. 7 (July 2010): 424–30. https://doi.org/10.1097/GIM.0b013e3181d94eaa.Full Text Link to Item
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Hobson-Webb, Lisa D., Stephanie L. Austin, Deeksha S. Bali, and Priya S. Kishnani. “The electrodiagnostic characteristics of Glycogen Storage Disease Type III.” Genet Med 12, no. 7 (July 2010): 440–45. https://doi.org/10.1097/GIM.0b013e3181cd735b.Full Text Link to Item
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Kishnani, Priya S., Stephanie L. Austin, Pamela Arn, Deeksha S. Bali, Anne Boney, Laura E. Case, Wendy K. Chung, et al. “Glycogen storage disease type III diagnosis and management guidelines.” Genet Med 12, no. 7 (July 2010): 446–63. https://doi.org/10.1097/GIM.0b013e3181e655b6.Full Text Link to Item
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Vertilus, Shawyntee M., Stephanie L. Austin, Kimberly S. Foster, Keri E. Boyette, Deeksha S. Bali, Jennifer S. Li, Priya S. Kishnani, and Stephanie Burns Wechsler. “Echocardiographic manifestations of Glycogen Storage Disease III: increase in wall thickness and left ventricular mass over time.” Genet Med 12, no. 7 (July 2010): 413–23. https://doi.org/10.1097/GIM.0b013e3181e0e979.Full Text Link to Item
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Yanovitch, Tammy L., Robin Casey, Suhrad G. Banugaria, and Priya S. Kishnani. “Improvement of bilateral ptosis on higher dose enzyme replacement therapy in Pompe disease.” J Neuroophthalmol 30, no. 2 (June 2010): 165–66. https://doi.org/10.1097/WNO.0b013e3181ce162a.Full Text Link to Item
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Ploeg, Ans T. van der, Paula R. Clemens, Deyanira Corzo, Diana M. Escolar, Julaine Florence, Geert Jan Groeneveld, Serge Herson, et al. “A randomized study of alglucosidase alfa in late-onset Pompe's disease.” N Engl J Med 362, no. 15 (April 15, 2010): 1396–1406. https://doi.org/10.1056/NEJMoa0909859.Full Text Link to Item
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Banugaria, Suhrad G., Stephanie L. Austin, Anne Boney, Thomas J. Weber, and Priya S. Kishnani. “Hypovitaminosis D in glycogen storage disease type I.” Mol Genet Metab 99, no. 4 (April 2010): 434–37. https://doi.org/10.1016/j.ymgme.2009.12.012.Full Text Link to Item
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Scales, Charles D., Aravind S. Chandrashekar, Marnie R. Robinson, David A. Cantor, Jennifer Sullivan, George E. Haleblian, Victor A. Leitao, et al. “Stone forming risk factors in patients with type Ia glycogen storage disease.” J Urol 183, no. 3 (March 2010): 1022–25. https://doi.org/10.1016/j.juro.2009.11.040.Full Text Link to Item
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Sun, Baodong, Michael D. Kulis, Sarah P. Young, Amy C. Hobeika, Songtao Li, Andrew Bird, Haoyue Zhang, et al. “Immunomodulatory gene therapy prevents antibody formation and lethal hypersensitivity reactions in murine pompe disease.” Mol Ther 18, no. 2 (February 2010): 353–60. https://doi.org/10.1038/mt.2009.195.Full Text Link to Item
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Kishnani, Priya S., Paula C. Goldenberg, Stephanie L. DeArmey, James Heller, Danny Benjamin, Sarah Young, Deeksha Bali, et al. “Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants.” Mol Genet Metab 99, no. 1 (January 2010): 26–33. https://doi.org/10.1016/j.ymgme.2009.08.003.Full Text Link to Item
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Yanovitch, Tammy L., Suhrad G. Banugaria, Alan D. Proia, and Priya S. Kishnani. “Clinical and histologic ocular findings in pompe disease.” J Pediatr Ophthalmol Strabismus 47, no. 1 (2010): 34–40. https://doi.org/10.3928/01913913-20100106-08.Full Text Link to Item
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Kishnani, Priya S., Tzu-Po Chuang, Deeksha Bali, Dwight Koeberl, Stephanie Austin, David A. Weinstein, Elaine Murphy, et al. “Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage disease.” Hum Mol Genet 18, no. 24 (December 15, 2009): 4781–90. https://doi.org/10.1093/hmg/ddp441.Full Text Link to Item
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Koeberl, Dwight D., and Priya S. Kishnani. “Immunomodulatory gene therapy in lysosomal storage disorders.” Curr Gene Ther 9, no. 6 (December 2009): 503–10. https://doi.org/10.2174/156652309790031094.Full Text Link to Item
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Skotko, Brian G., Priya S. Kishnani, George T. Capone, and George T. Down Syndrome Diagnosis Study Group. “Prenatal diagnosis of Down syndrome: how best to deliver the news.” Am J Med Genet A 149A, no. 11 (November 2009): 2361–67. https://doi.org/10.1002/ajmg.a.33082.Full Text Link to Item
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Skotko, Brian G., George T. Capone, Priya S. Kishnani, and Priya S. Down Syndrome Diagnosis Study Group. “Postnatal diagnosis of Down syndrome: synthesis of the evidence on how best to deliver the news.” Pediatrics 124, no. 4 (October 2009): e751–58. https://doi.org/10.1542/peds.2009-0480.Full Text Link to Item
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Kishnani, Priya S., Deya Corzo, Nancy D. Leslie, Daniel Gruskin, Ans Van der Ploeg, John P. Clancy, Rosella Parini, et al. “Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease.” Pediatr Res 66, no. 3 (September 2009): 329–35. https://doi.org/10.1203/PDR.0b013e3181b24e94.Full Text Link to Item
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Reddy, Srinevas K., Stephanie L. Austin, Michele Spencer-Manzon, Dwight D. Koeberl, Bryan M. Clary, Dev M. Desai, Alastair D. Smith, and Priya S. Kishnani. “Liver transplantation for glycogen storage disease type Ia.” J Hepatol 51, no. 3 (September 2009): 483–90. https://doi.org/10.1016/j.jhep.2009.05.026.Full Text Link to Item
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Kishnani, Priya S., Barbara R. Sommer, Benjamin L. Handen, Benjamin Seltzer, George T. Capone, Gail A. Spiridigliozzi, James H. Heller, Sharon Richardson, and Thomas McRae. “The efficacy, safety, and tolerability of donepezil for the treatment of young adults with Down syndrome.” Am J Med Genet A 149A, no. 8 (August 2009): 1641–54. https://doi.org/10.1002/ajmg.a.32953.Full Text Link to Item
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Al-Lozi, Muhammad I., Anthony A. Amato, Richard Barohn, Edward J. Cupler, Priya S. Kishnani, Robert T. Leshner, and Tahseen Mozaffar. “DIAGNOSTIC CRITERIA FOR LATE-ONSET (CHILDHOOD AND ADULT) POMPE DISEASE.” Muscle & Nerve 40, no. 1 (July 1, 2009): 149–60. https://doi.org/10.1002/21393.Full Text Link to Item
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American Association of Neuromuscular & Electrodiagnostic Medicine, Sue. “Diagnostic criteria for late-onset (childhood and adult) Pompe disease.” Muscle Nerve 40, no. 1 (July 2009): 149–60. https://doi.org/10.1002/mus.21393.Full Text Link to Item
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Goldstein, Jennifer L., Sarah P. Young, Mohita Changela, Gwen H. Dickerson, Haoyue Zhang, Jian Dai, Denise Peterson, David S. Millington, Priya S. Kishnani, and Deeksha S. Bali. “Screening for Pompe disease using a rapid dried blood spot method: experience of a clinical diagnostic laboratory.” Muscle Nerve 40, no. 1 (July 2009): 32–36. https://doi.org/10.1002/mus.21376.Full Text Link to Item
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Koeberl, D. D., P. S. Kishnani, D. Bali, and Y. -. T. Chen. “Emerging therapies for glycogen storage disease type I.” Trends Endocrinol Metab 20, no. 5 (July 2009): 252–58. https://doi.org/10.1016/j.tem.2009.02.003.Full Text Link to Item
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Young, Sarah P., Haoyue Zhang, Deyanira Corzo, Beth L. Thurberg, Deeksha Bali, Priya S. Kishnani, and David S. Millington. “Long-term monitoring of patients with infantile-onset Pompe disease on enzyme replacement therapy using a urinary glucose tetrasaccharide biomarker.” Genet Med 11, no. 7 (July 2009): 536–41. https://doi.org/10.1097/GIM.0b013e3181a87867.Full Text Link to Item
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Kishnani, P. S., M. DiRocco, P. Kaplan, A. Mehta, G. M. Pastores, S. E. Smith, A. C. Puga, R. M. Lemay, and N. J. Weinreb. “A randomized trial comparing the efficacy and safety of imiglucerase (Cerezyme) infusions every 4 weeks versus every 2 weeks in the maintenance therapy of adult patients with Gaucher disease type 1.” Mol Genet Metab 96, no. 4 (April 2009): 164–70. https://doi.org/10.1016/j.ymgme.2008.12.015.Full Text Link to Item
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Nicolino, Marc, Barry Byrne, J Edmund Wraith, Nancy Leslie, Hanna Mandel, David R. Freyer, Georgianne L. Arnold, et al. “Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease.” Genet Med 11, no. 3 (March 2009): 210–19. https://doi.org/10.1097/GIM.0b013e31819d0996.Full Text Link to Item
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Koeberl, Dwight, Priya Kishnani, Paula Goldenberg, Stephanie Dearmey, James Heller, Danny Benjamin, Sarah Young, et al. “77. Cross-reacting immunologic material status affects outcomes in infants with Pompe disease treated with alglucosidase alfa.” Molecular Genetics and Metabolism 96, no. 2 (February 2009): S28–29. https://doi.org/10.1016/j.ymgme.2008.11.078.Full Text
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Rhead, William, Cara Wells, David Margolis, and Priya Kishnani. “115. Immune-modulation therapy in a CRIM negative Pompe disease patient blocks antibody formation towards Myozyme, reverses cardiomyopathy, and prolongs survival.” Molecular Genetics and Metabolism 96, no. 2 (February 2009): S37–S37. https://doi.org/10.1016/j.ymgme.2008.11.116.Full Text
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Mendelsohn, Nancy J., Yoav H. Messinger, Amy S. Rosenberg, and Priya S. Kishnani. “Elimination of antibodies to recombinant enzyme in Pompe's disease.” N Engl J Med 360, no. 2 (January 8, 2009): 194–95. https://doi.org/10.1056/NEJMc0806809.Full Text Link to Item
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Muller, C. W., H. N. Jones, G. O’Grady, H. A. Suárez, J. H. Heller, and P. S. Kishnani. “Language and speech function in children with infantile Pompe disease.” Journal of Pediatric Neurology 7, no. 2 (January 1, 2009): 147–56. https://doi.org/10.3233/JPN-2009-0291.Full Text
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Case, Laura E., Dwight D. Koeberl, Sarah P. Young, Deeksha Bali, Stephanie M. DeArmey, Joanne Mackey, and Priya S. Kishnani. “Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease: a case study.” Mol Genet Metab 95, no. 4 (December 2008): 233–35. https://doi.org/10.1016/j.ymgme.2008.09.001.Full Text Link to Item
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Kishnani, Priya S. “A Multicenter, Randomized, Dose Frequency Study of the Safety and Efficacy of Cerezyme (R) Infusions Every 4 Weeks Versus Every 2 Weeks in the Maintenance Therapy of Patients with Type 1 Gaucher Disease.” Blood 112, no. 11 (November 16, 2008): 460–460.Link to Item
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Levine, Jami C., Priya S. Kishnani, Y. T. Chen, J Rene Herlong, and Jennifer S. Li. “Cardiac remodeling after enzyme replacement therapy with acid alpha-glucosidase for infants with Pompe disease.” Pediatr Cardiol 29, no. 6 (November 2008): 1033–42. https://doi.org/10.1007/s00246-008-9267-3.Full Text Link to Item
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Spencer, Carolyn T., Jami Levine, Deya Corzo, Steven D. Colan, Dionne Graham, Priya S. Kishnani, Mark Nicolino, et al. “Clinical Response to Recombinant Acid alpha-Glucosidase is Predicted by Cardiac Outcome Measures in Children with Pompe Disease.” Circulation 118, no. 18 (October 28, 2008): S881–S881.Link to Item
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McDowell, Roddy, Jennifer S. Li, Daniel Kelly Benjamin, Claire Morgan, Alison Becker, Priya S. Kishnani, and Ronald J. Kanter. “Arrhythmias in patients receiving enzyme replacement therapy for infantile Pompe disease.” Genet Med 10, no. 10 (October 2008): 758–62. https://doi.org/10.1097/GIM.0b013e318183722f.Full Text Link to Item
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Koeberl, Dwight D., Carlos Pinto, Baodong Sun, Songtao Li, Daniel M. Kozink, Daniel K. Benjamin, Amanda K. Demaster, et al. “AAV vector-mediated reversal of hypoglycemia in canine and murine glycogen storage disease type Ia.” Mol Ther 16, no. 4 (April 2008): 665–72. https://doi.org/10.1038/mt.2008.15.Full Text Link to Item
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Pompe Disease Diagnostic Working Group, J., B. Winchester, D. Bali, O. A. Bodamer, C. Caillaud, E. Christensen, A. Cooper, et al. “Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting.” Mol Genet Metab 93, no. 3 (March 2008): 275–81. https://doi.org/10.1016/j.ymgme.2007.09.006.Full Text Link to Item
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Koeberl, D. D., and P. S. Kishnani. “Pompe's disease: Enzyme replacement therapy.” Drugs of the Future 32, no. 12 (December 1, 2007): 1067–70. https://doi.org/10.1358/dof.2007.032.12.1158295.Full Text
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Kallwass, H., C. Carr, J. Gerrein, M. Titlow, R. Pomponio, D. Bali, J. Dai, et al. “Erratum to "Rapid diagnosis of late-onset Pompe disease by fluorometric assay of α-glucosidase activities in dried blood spots" [Mol. Genet. Metab. 90 (2007) 449-452] (DOI:10.1016/j.ymgme.2006.12.006).” Molecular Genetics and Metabolism 92, no. 3 (November 1, 2007): 285. https://doi.org/10.1016/j.ymgme.2006.12.014.Full Text
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Kemper, Alex R., Wuh-Liang Hwu, Michele Lloyd-Puryear, and Priya S. Kishnani. “Newborn screening for Pompe disease: synthesis of the evidence and development of screening recommendations.” Pediatrics 120, no. 5 (November 2007): e1327–34. https://doi.org/10.1542/peds.2007-0388.Full Text Link to Item
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Reddy, Srinevas K., Priya S. Kishnani, Jennifer A. Sullivan, Dwight D. Koeberl, Dev M. Desai, Michael A. Skinner, Henry E. Rice, and Bryan M. Clary. “Resection of hepatocellular adenoma in patients with glycogen storage disease type Ia.” J Hepatol 47, no. 5 (November 2007): 658–63. https://doi.org/10.1016/j.jhep.2007.05.012.Full Text Link to Item
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Smith, Wendy E., Jennifer A. Sullivan-Saarela, Jennifer S. Li, Gerald F. Cox, Deyanira Corzo, Yuan-Tsong Chen, and Priya S. Kishnani. “Sibling phenotype concordance in classical infantile Pompe disease.” Am J Med Genet A 143A, no. 21 (November 1, 2007): 2493–2501. https://doi.org/10.1002/ajmg.a.31936.Full Text Link to Item
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Sun, Baodong, Andrew Bird, Sarah P. Young, Priya S. Kishnani, Y. -. T. Chen, and Dwight D. Koeberl. “Enhanced response to enzyme replacement therapy in Pompe disease after the induction of immune tolerance.” Am J Hum Genet 81, no. 5 (November 2007): 1042–49. https://doi.org/10.1086/522236.Full Text Link to Item
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Krishnamurthy, V., K. Eschrich, A. Boney, J. Sullivan, M. McDonald, P. S. Kishnani, and D. D. Koeberl. “Three successful pregnancies through dietary management of fructose-1,6-bisphosphatase deficiency.” J Inherit Metab Dis 30, no. 5 (October 2007): 819. https://doi.org/10.1007/s10545-007-0606-y.Full Text Link to Item
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Kishnani, P. S., S. BurnsWechsler, and J. S. Li. “Enzyme-deficiency metabolic cardiomyopathies and the role of enzyme replacement therapy.” Progress in Pediatric Cardiology 23, no. 1–2 (September 1, 2007): 39–48. https://doi.org/10.1016/j.ppedcard.2007.05.005.Full Text
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Kishnani, P. S., and Y. T. Chen. “Important role of abnormal glycogen structure in the development of liver cirrhosis and progression to hepatocellular carcinoma in patients with glycogen storage disease type-III.” Journal of Hepatology 47, no. 2 (August 1, 2007): 300–301. https://doi.org/10.1016/j.jhep.2007.05.008.Full Text
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Wang, Luke Y-J, Allison K. Ross, Jennifer S. Li, Stephanie M. Dearmey, Joanne F. Mackey, Maryalice Worden, Deyanira Corzo, Claire Morgan, and Priya S. Kishnani. “Cardiac arrhythmias following anesthesia induction in infantile-onset Pompe disease: a case series.” Paediatr Anaesth 17, no. 8 (August 2007): 738–48. https://doi.org/10.1111/j.1460-9592.2007.02215.x.Full Text Link to Item
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Spiridigliozzi, Gail A., James H. Heller, Blythe G. Crissman, Jennifer A. Sullivan-Saarela, Rebecca Eells, Deborah Dawson, Jennifer Li, and Priya S. Kishnani. “Preliminary study of the safety and efficacy of donepezil hydrochloride in children with Down syndrome: a clinical report series.” Am J Med Genet A 143A, no. 13 (July 1, 2007): 1408–13. https://doi.org/10.1002/ajmg.a.31790.Full Text Link to Item
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Case, Laura E., Rabi Hanna, Donald P. Frush, Vidya Krishnamurthy, Stephanie DeArmey, Joanne Mackey, Anne Boney, et al. “Fractures in children with Pompe disease: a potential long-term complication.” Pediatr Radiol 37, no. 5 (May 2007): 437–45. https://doi.org/10.1007/s00247-007-0428-y.Full Text Link to Item
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Kallwass, Helmut, Cortney Carr, Joseph Gerrein, Mariah Titlow, Robert Pomponio, Deeksha Bali, Jian Dai, et al. “Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots.” Mol Genet Metab 90, no. 4 (April 2007): 449–52. https://doi.org/10.1016/j.ymgme.2006.12.006.Full Text Link to Item
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Koeberl, D. D., P. S. Kishnani, and Y. T. Chen. “Glycogen storage disease types I and II: treatment updates.” J Inherit Metab Dis 30, no. 2 (April 2007): 159–64. https://doi.org/10.1007/s10545-007-0519-9.Full Text Link to Item
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Demo, Erin, Donald Frush, Marcia Gottfried, John Koepke, Anne Boney, Deeksha Bali, Y. T. Chen, and Priya S. Kishnani. “Glycogen storage disease type III-hepatocellular carcinoma a long-term complication?” J Hepatol 46, no. 3 (March 2007): 492–98. https://doi.org/10.1016/j.jhep.2006.09.022.Full Text Link to Item
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Kishnani, P. S., D. Corzo, M. Nicolino, B. Byrne, H. Mandel, W. L. Hwu, N. Leslie, et al. “Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease.” Neurology 68, no. 2 (January 9, 2007): 99–109. https://doi.org/10.1212/01.wnl.0000251268.41188.04.Full Text Link to Item
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Raben, Nina, Shoichi Takikita, Maria G. Pittis, Bruno Bembi, Suely K. N. Marie, Ashley Roberts, Laura Page, et al. “Deconstructing Pompe disease by analyzing single muscle fibers: to see a world in a grain of sand..” Autophagy 3, no. 6 (2007): 546–52. https://doi.org/10.4161/auto.4591.Full Text Link to Item
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Heller, James H., Gail A. Spiridigliozzi, Blythe G. Crissman, Jennifer A. Sullivan, Rebecca L. Eells, Jennifer S. Li, P Murali Doraiswamy, K Ranga Krishnan, and Priya S. Kishnani. “Safety and efficacy of rivastigmine in adolescents with Down syndrome: a preliminary 20-week, open-label study.” J Child Adolesc Psychopharmacol 16, no. 6 (December 2006): 755–65. https://doi.org/10.1089/cap.2006.16.755.Full Text Link to Item
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Thurberg, Beth L., Colleen Lynch Maloney, Charles Vaccaro, Kendra Afonso, Anne Chun-Hui Tsai, Edward Bossen, Priya S. Kishnani, and Michael O’Callaghan. “Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease.” Lab Invest 86, no. 12 (December 2006): 1208–20. https://doi.org/10.1038/labinvest.3700484.Full Text Link to Item
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Crissman, Blythe G., Gordon Worley, Nancy Roizen, and Priya S. Kishnani. “Current perspectives on Down syndrome: selected medical and social issues.” Am J Med Genet C Semin Med Genet 142C, no. 3 (August 15, 2006): 127–30. https://doi.org/10.1002/ajmg.c.30099.Full Text Link to Item
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Dixon, Natalia, Priya S. Kishnani, and Sherri Zimmerman. “Clinical manifestations of hematologic and oncologic disorders in patients with Down syndrome.” Am J Med Genet C Semin Med Genet 142C, no. 3 (August 15, 2006): 149–57. https://doi.org/10.1002/ajmg.c.30096.Full Text Link to Item
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Heller, James H., Gail A. Spiridigliozzi, Blythe G. Crissman, Jennifer A. Sullivan-Saarela, Jennifer S. Li, and Priya S. Kishnani. “Clinical trials in children with Down syndrome: issues from a cognitive research perspective.” Am J Med Genet C Semin Med Genet 142C, no. 3 (August 15, 2006): 187–95. https://doi.org/10.1002/ajmg.c.30103.Full Text Link to Item
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Kishnani, Priya Sunil, Marc Nicolino, Thomas Voit, R Curtis Rogers, Anne Chun-Hui Tsai, John Waterson, Gail E. Herman, et al. “Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease.” J Pediatr 149, no. 1 (July 2006): 89–97. https://doi.org/10.1016/j.jpeds.2006.02.035.Full Text Link to Item
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Kishnani, P. S., R. D. Steiner, D. Bali, K. Berger, B. J. Byrne, L. E. Case, J. F. Crowley, et al. “Erratum: Pompe disease diagnosis and management guidelines (Genetics in Medicine (May 2006) 8 (267-288)).” Genetics in Medicine 8, no. 6 (June 1, 2006): 382. https://doi.org/10.1097/00125817-200606000-00008.Full Text
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Ansong, Annette K., Jennifer S. Li, Eva Nozik-Grayck, Richard Ing, Richard M. Kravitz, Salim F. Idriss, Ronald J. Kanter, Henry Rice, Y. T. Chen, and Priya S. Kishnani. “Electrocardiographic response to enzyme replacement therapy for Pompe disease.” Genet Med 8, no. 5 (May 2006): 297–301. https://doi.org/10.1097/01.gim.0000195896.04069.5f.Full Text Link to Item
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Case, Laura Elizabeth, and Priya Sunil Kishnani. “Physical therapy management of Pompe disease.” Genet Med 8, no. 5 (May 2006): 318–27. https://doi.org/10.1097/01.gim.0000217789.14470.c5.Full Text Link to Item
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Cook, Amanda L., Priya S. Kishnani, Michael P. Carboni, Ronald J. Kanter, Y. T. Chen, Annette K. Ansong, Richard M. Kravitz, Henry Rice, and Jennifer S. Li. “Ambulatory electrocardiogram analysis in infants treated with recombinant human acid alpha-glucosidase enzyme replacement therapy for Pompe disease.” Genet Med 8, no. 5 (May 2006): 313–17. https://doi.org/10.1097/01.gim.0000217786.79173.a8.Full Text Link to Item
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Howell, R Rodney, Barry Byrne, Basil T. Darras, Priya Kishnani, Marc Nicolino, and Ans van der Ploeg. “Diagnostic challenges for Pompe disease: an under-recognized cause of floppy baby syndrome.” Genet Med 8, no. 5 (May 2006): 289–96. https://doi.org/10.1097/01.gim.0000204462.42910.b8.Full Text Link to Item
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Jack, Rhona M., Cindy Gordon, C. R. Scott, Priya S. Kishnani, and Deeksha Bali. “The use of acarbose inhibition in the measurement of acid alpha-glucosidase activity in blood lymphocytes for the diagnosis of Pompe disease.” Genet Med 8, no. 5 (May 2006): 307–12. https://doi.org/10.1097/01.gim.0000217785.19262.9e.Full Text Link to Item
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Kishnani, Priya S., Robert D. Steiner, Deeksha Bali, Kenneth Berger, Barry J. Byrne, Laura E. Case, John F. Crowley, et al. “Pompe disease diagnosis and management guideline.” Genet Med 8, no. 5 (May 2006): 267–88. https://doi.org/10.1097/01.gim.0000218152.87434.f3.Full Text Link to Item
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Kishnani, Priya S., Wuh-Liang Hwu, Hanna Mandel, Marc Nicolino, Florence Yong, Deyanira Corzo, and Deyanira Infantile-Onset Pompe Disease Natural History Study Group. “A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease.” J Pediatr 148, no. 5 (May 2006): 671–76. https://doi.org/10.1016/j.jpeds.2005.11.033.Full Text Link to Item
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Zhang, Haoyue, Helmut Kallwass, Sarah P. Young, Cortney Carr, Jian Dai, Priya S. Kishnani, David S. Millington, Joan Keutzer, Yuan-Tsong Chen, and Deeksha Bali. “Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid alpha-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease.” Genet Med 8, no. 5 (May 2006): 302–6. https://doi.org/10.1097/01.gim.0000217781.66786.9b.Full Text Link to Item
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Quigley, Denise I., Marie T. McDonald, Vidya Krishnamuthy, Priya S. Kishnani, Mary M. Lee, Andrea M. Haqq, and Barbara K. Goodman. “Triploid mosaicism in a 45,X/69,XXY infant.” Am J Med Genet A 138A, no. 2 (October 1, 2005): 171–74. https://doi.org/10.1002/ajmg.a.30943.Full Text Link to Item
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Smith, Wendy, Priya S. Kishnani, Brendan Lee, Rani H. Singh, William J. Rhead, Lisa Sniderman King, Michael Smith, and Marshall Summar. “Urea cycle disorders: clinical presentation outside the newborn period.” Crit Care Clin 21, no. 4 Suppl (October 2005): S9-17. https://doi.org/10.1016/j.ccc.2005.05.007.Full Text Link to Item
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An, Yan, Sarah P. Young, Priya S. Kishnani, David S. Millington, Andrea Amalfitano, Deyanira Corz, and Yuan-Tsong Chen. “Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe disease.” Mol Genet Metab 85, no. 4 (August 2005): 247–54. https://doi.org/10.1016/j.ymgme.2005.03.010.Full Text Link to Item
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Goker-Alpan, O., K. S. Hruska, E. Orvisky, P. S. Kishnani, B. K. Stubblefield, R. Schiffmann, and E. Sidransky. “Divergent phenotypes in Gaucher disease implicate the role of modifiers.” J Med Genet 42, no. 6 (June 2005): e37. https://doi.org/10.1136/jmg.2004.028019.Full Text Link to Item
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Franco, L. M., V. Krishnamurthy, D. Bali, D. A. Weinstein, P. Arn, B. Clary, A. Boney, et al. “Hepatocellular carcinoma in glycogen storage disease type Ia: a case series.” J Inherit Metab Dis 28, no. 2 (2005): 153–62. https://doi.org/10.1007/s10545-005-7500-2.Full Text Link to Item
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Van Hove, J. L. K., K. Vande Kerckhove, J. B. Hennermann, V. Mahieu, P. Declercq, S. Mertens, M. De Becker, P. S. Kishnani, and J. Jaeken. “Benzoate treatment and the glycine index in nonketotic hyperglycinaemia.” J Inherit Metab Dis 28, no. 5 (2005): 651–63. https://doi.org/10.1007/s10545-005-0033-x.Full Text Link to Item
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Heller, James H., Gail A. Spiridigliozzi, P Murali Doraiswamy, Jennifer A. Sullivan, Bythe G. Crissman, and Priya S. Kishnani. “Donepezil effects on language in children with Down syndrome: results of the first 22-week pilot clinical trial.” Am J Med Genet A 130A, no. 3 (October 15, 2004): 325–26. https://doi.org/10.1002/ajmg.a.30184.Full Text Link to Item
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Heller, J. H., G. A. Spiridigliozzi, P. M. Doraiswamy, J. A. Sullivan, B. G. Crissman, and P. S. Kishnani. “Donepezil effects on language in children with Down syndrome: results of the first 22-week pilot clinical trial.” American Journal of Medical Genetics. Part A 130, no. 3 (October 2004): 325–26.
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Hunley, Tracy E., Deyanira Corzo, Martha Dudek, Priya Kishnani, Andrea Amalfitano, Yuan-Tsong Chen, Susan M. Richards, John A. Phillips, Agnes B. Fogo, and George E. Tiller. “Nephrotic syndrome complicating alpha-glucosidase replacement therapy for Pompe disease.” Pediatrics 114, no. 4 (October 2004): e532–35. https://doi.org/10.1542/peds.2003-0988-L.Full Text Link to Item
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Worley, G., R. Shbarou, A. N. Heffner, K. M. Belsito, G. T. Capone, and P. S. Kishnani. “New onset focal weakness in children with Down syndrome.” American Journal of Medical Genetics. Part A 128, no. 1 (July 2004): 15–18.
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Worley, Gordon, Rolla Shbarou, Amy N. Heffner, Karin M. Belsito, George T. Capone, and Priya S. Kishnani. “New onset focal weakness in children with Down syndrome.” Am J Med Genet A 128A, no. 1 (July 1, 2004): 15–18. https://doi.org/10.1002/ajmg.a.30067.Full Text Link to Item
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Ing, Richard J., D Ryan Cook, Resai A. Bengur, Eric A. Williams, John Eck, Guy de L. Dear, Allison K. Ross, Frank H. Kern, and Priya S. Kishnani. “Anaesthetic management of infants with glycogen storage disease type II: a physiological approach.” Paediatr Anaesth 14, no. 6 (June 2004): 514–19. https://doi.org/10.1111/j.1460-9592.2004.01242.x.Full Text Link to Item
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Kishnani, Priya Sunil, and R Rodney Howell. “Pompe disease in infants and children.” J Pediatr 144, no. 5 Suppl (May 2004): S35–43. https://doi.org/10.1016/j.jpeds.2004.01.053.Full Text Link to Item
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Kishnani, Priya S., Jennifer A. Sullivan, Gail A. Spiridigliozzi, James H. Heller, and Blythe G. Crissman. “Donepezil use in Down syndrome.” Arch Neurol 61, no. 4 (April 2004): 605–6. https://doi.org/10.1001/archneur.61.4.605-b.Full Text Link to Item
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Hardy, O., G. Worley, M. M. Lee, S. Chaing, J. Mackey, B. Crissman, and P. S. Kishnani. “Hypothyroidism in Down syndrome: screening guidelines and testing methodology.” American Journal of Medical Genetics. Part A 124, no. 4 (February 2004): 436–37.
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Hardy, O., G. Worley, M. M. Lee, S. Chaing, J. Mackey, B. Crissman, and P. S. Kishnani. “Hypothyroidism in Down Syndrome: Screening Guidelines and Testing Methodology [4].” American Journal of Medical Genetics 124 A, no. 4 (February 1, 2004): 436–37.
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Hardy, Olga, Gordon Worley, Mary M. Lee, Shu Chaing, Joanne Mackey, Blythe Crissman, and Priya Sunil Kishnani. “Hypothyroidism in Down syndrome: screening guidelines and testing methodology.” Am J Med Genet A 124A, no. 4 (February 1, 2004): 436–37. https://doi.org/10.1002/ajmg.a.20356.Full Text Link to Item
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Hanna, R., M. T. McDonald, J. A. Sullivan, J. F. Mackey, V. Krishnamurthy, and P. S. Kishnani. “Diagnostic and treatment challenges of neuronopathic Gaucher disease: two cases with an intermediate phenotype.” J Inherit Metab Dis 27, no. 5 (2004): 687–90. https://doi.org/10.1023/b:boli.0000043027.80328.75.Full Text Link to Item
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Koeberl, Dwight D., Sarah P. Young, Niels S. Gregersen, Jerry Vockley, Wendy E. Smith, Daniel Kelly Benjamin, Yan An, et al. “Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening.” Pediatr Res 54, no. 2 (August 2003): 219–23. https://doi.org/10.1203/01.PDR.0000074972.36356.89.Full Text Link to Item
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Heller, James H., Gail A. Spiridigliozzi, Jennifer A. Sullivan, P Murali Doraiswamy, Ranga R. Krishnan, and Priya S. Kishnani. “Donepezil for the treatment of language deficits in adults with Down syndrome: a preliminary 24-week open trial.” Am J Med Genet A 116A, no. 2 (January 15, 2003): 111–16. https://doi.org/10.1002/ajmg.a.10074.Full Text Link to Item
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Koeberl, D. D., D. S. Millington, W. E. Smith, S. D. Weavil, J. Muenzer, S. E. McCandless, P. S. Kishnani, et al. “Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening.” J Inherit Metab Dis 26, no. 1 (2003): 25–35. https://doi.org/10.1023/a:1024015227863.Full Text Link to Item
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Snyder, Matthew J., William D. Bradford, Priya S. Kishnani, and Laura P. Hale. “Idiopathic hyperammonemia following an unrelated cord blood transplant for mucopolysaccharidosis I.” Pediatr Dev Pathol 6, no. 1 (2003): 78–83. https://doi.org/10.1007/s10024-001-0271-3.Full Text Link to Item
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Beaty, R. M., M. Jackson, D. Peterson, A. Bird, T. Brown, D. K. Benjamin, T. Juopperi, et al. “Delivery of glucose-6-phosphatase in a canine model for glycogen storage disease, type Ia, with adeno-associated virus (AAV) vectors.” Gene Ther 9, no. 15 (August 2002): 1015–22. https://doi.org/10.1038/sj.gt.3301728.Full Text Link to Item
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Mackey, J., W. R. Treem, G. Worley, A. Boney, P. Hart, and P. S. Kishnani. “Frequency of celiac disease in individuals with Down syndrome in the United States.” Clin Pediatr (Phila) 40, no. 5 (May 2001): 249–52. https://doi.org/10.1177/000992280104000502.Full Text Link to Item
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Amalfitano, A., A. R. Bengur, R. P. Morse, J. M. Majure, L. E. Case, D. L. Veerling, J. Mackey, et al. “Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial.” Genet Med 3, no. 2 (2001): 132–38.Link to Item
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Kishnani, P. S., E. Faulkner, S. VanCamp, M. Jackson, T. Brown, A. Boney, D. Koeberl, and Y. T. Chen. “Canine model and genomic structural organization of glycogen storage disease type Ia (GSD Ia).” Vet Pathol 38, no. 1 (January 2001): 83–91. https://doi.org/10.1354/vp.38-1-83.Full Text Link to Item
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Kishnani, P. S., G. A. Spiridigliozzi, J. H. Heller, J. A. Sullivan, P. M. Doraiswamy, and K. R. Krishnan. “Donepezil for Down's syndrome.” Am J Psychiatry 158, no. 1 (January 2001): 143. https://doi.org/10.1176/appi.ajp.158.1.143.Full Text Link to Item
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Van Hove, J. L., P. S. Kishnani, P. Demaerel, S. G. Kahler, C. Miller, J. Jaeken, and S. L. Rutledge. “Acute hydrocephalus in nonketotic hyperglycinemia.” Neurology 54, no. 3 (February 8, 2000): 754–56. https://doi.org/10.1212/wnl.54.3.754.Full Text Link to Item
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Hobson-Webb, L. D., H. N. Jones, and P. S. Kishnani. “Oropharyngeal dysphagia.” Clinical Perspectives in Gastroenterology 3, no. 2 (January 1, 2000): 69–81.
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Shaiu, W. L., P. S. Kishnani, J. Shen, H. M. Liu, and Y. T. Chen. “Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease.” Mol Genet Metab 69, no. 1 (January 2000): 16–23. https://doi.org/10.1006/mgme.1999.2953.Full Text Link to Item
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Ahmad, A., S. G. Kahler, P. S. Kishnani, M. Artigas-Lopez, A. S. Pappu, R. Steiner, D. S. Millington, and J. L. Van Hove. “Treatment of pyruvate carboxylase deficiency with high doses of citrate and aspartate.” Am J Med Genet 87, no. 4 (December 3, 1999): 331–38. https://doi.org/10.1002/(sici)1096-8628(19991203)87:4<331::aid-ajmg10>3.0.co;2-k.Full Text Link to Item
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Ahmad, A., A. Amalfitano, Y. T. Chen, P. S. Kishnani, C. Miller, and R. Kelley. “Dubowitz syndrome: a defect in the cholesterol biosynthetic pathway?” Am J Med Genet 86, no. 5 (October 29, 1999): 503–4.Link to Item
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Kishnani, P. S., A. Boney, and Y. T. Chen. “Nutritional deficiencies in a patient with glycogen storage disease type Ib.” J Inherit Metab Dis 22, no. 7 (October 1999): 795–801. https://doi.org/10.1023/a:1005549823146.Full Text Link to Item
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Kishnani, P. S., J. A. Sullivan, B. K. Walter, G. A. Spiridigliozzi, P. M. Doraiswamy, and K. R. Krishnan. “Cholinergic therapy for Down's syndrome.” Lancet 353, no. 9158 (March 27, 1999): 1064–65. https://doi.org/10.1016/S0140-6736(98)05285-4.Full Text Link to Item
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Kishnani, P. S., Y. Bao, J. Y. Wu, A. E. Brix, J. L. Lin, and Y. T. Chen. “Isolation and nucleotide sequence of canine glucose-6-phosphatase mRNA: identification of mutation in puppies with glycogen storage disease type Ia.” Biochem Mol Med 61, no. 2 (August 1997): 168–77. https://doi.org/10.1006/bmme.1997.2600.Full Text Link to Item
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Kishnani, P. S., J. L. Van Hove, J. S. Shoffner, A. Kaufman, E. H. Bossen, and S. G. Kahler. “Acute pancreatitis in an infant with lactic acidosis and a mutation at nucleotide 3243 in the mitochondrial DNA tRNALeu(UUR) gene.” Eur J Pediatr 155, no. 10 (October 1996): 898–903. https://doi.org/10.1007/BF02282842.Full Text Link to Item
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Wang, M., P. Kishnani, M. Decker-Phillips, S. G. Kahler, Y. T. Chen, and M. Godfrey. “Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome.” J Med Genet 33, no. 9 (September 1996): 760–63. https://doi.org/10.1136/jmg.33.9.760.Full Text Link to Item
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Bao, Y., P. Kishnani, J. Y. Wu, and Y. T. Chen. “Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.” J Clin Invest 97, no. 4 (February 15, 1996): 941–48. https://doi.org/10.1172/JCI118517.Full Text Link to Item
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Kishnani, P., A. R. Bengur, and Y. T. Chen. “Pulmonary hypertension in glycogen storage disease type I.” J Inherit Metab Dis 19, no. 2 (1996): 213–16. https://doi.org/10.1007/BF01799432.Full Text Link to Item
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McConkie-Rosell, A., C. Wilson, D. A. Piccoli, J. Boyle, T. DeClue, P. Kishnani, J. J. Shen, A. Boney, B. Brown, and Y. T. Chen. “Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease.” J Inherit Metab Dis 19, no. 1 (1996): 51–58. https://doi.org/10.1007/BF01799348.Full Text Link to Item
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Van Hove, J. L., P. Kishnani, J. Muenzer, R. J. Wenstrup, M. L. Summar, M. R. Brummond, A. M. Lachiewicz, D. S. Millington, and S. G. Kahler. “Benzoate therapy and carnitine deficiency in non-ketotic hyperglycinemia.” Am J Med Genet 59, no. 4 (December 4, 1995): 444–53. https://doi.org/10.1002/ajmg.1320590410.Full Text Link to Item
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Kishnani, P., A. K. Iafolla, A. McConkie-Rosell, J. L. Van Hove, R. J. Kanter, and S. G. Kahler. “Hemangioma, supraumbilical midline raphé, and coarctation of the aorta with a right aortic arch: single causal entity?” Am J Med Genet 59, no. 1 (October 23, 1995): 44–48. https://doi.org/10.1002/ajmg.1320590110.Full Text Link to Item
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Silber, J. H., J. Radcliffe, V. Peckham, G. Perilongo, P. Kishnani, M. Fridman, J. W. Goldwein, and A. T. Meadows. “Whole-brain irradiation and decline in intelligence: the influence of dose and age on IQ score.” J Clin Oncol 10, no. 9 (September 1992): 1390–96. https://doi.org/10.1200/JCO.1992.10.9.1390.Full Text Link to Item
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Book Sections
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Korlimarla, Aditi, Priya Kishnani, and Rebecca Gibson. “Glycogen Storage Diseases.” In Bernstein, L.E., Rohr, F., van Calcar, S. (Eds.) Nutrition Management of Inherited Metabolic Diseases Lessons from Metabolic University, 349–62. Springer, Cham., 2022. https://doi.org/10.1007/978-3-030-94510-7_25.Full Text Link to Item
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Korlimarla, Aditi, Sarah Hart, Gail Spiridigliozzi, and Priya Kishnani. “Down syndrome.” In Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition, edited by Priya John C. Carey Agatino Battaglia David Viskochil Suzanne B. Cassidy, 355–87. © 2021 John Wiley & Sons, Inc., 2021. https://doi.org/10.1002/9781119432692.ch24.Full Text Open Access Copy Link to Item
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Kishnani, Priya. “Disorders of Carbohydrate Metabolism.” In Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics, edited by Priya Reed Pyeritz Bruce Korf Wayne Grody. Elsevier, Academic Press 2021, 2020.Link to Item
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Patel, Bimal, Surekha Pendyal, Priya S. Kishnani, Marie McDonald, and Lauren Bailey. “Early Diagnosed and Treated Glutaric Acidemia Type 1 Female Presenting with Subependymal Nodules in Adulthood.,” 40:85–90, 2018. https://doi.org/10.1007/8904_2017_66.Full Text Link to Item
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Kishnani, P. S. “Challenges of enzyme replacement therapy: Poor tissue distribution in lysosomal diseases using pompe disease as a model.” In Biobetters: Protein Engineering to Approach the Curative, 9–21, 2015. https://doi.org/10.1007/978-1-4939-2543-8_2.Full Text
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Chien, Yin-Hsiu, Jennifer L. Goldstein, Wuh-Liang Hwu, P Brian Smith, Ni-Chung Lee, Shu-Chuan Chiang, Adviye A. Tolun, et al. “Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn Screening.,” 19:67–73, 2015. https://doi.org/10.1007/8904_2014_366.Full Text Link to Item
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Kishnani, P. S., and Y. T. Chen. “Disorders of Carbohydrate Metabolism.” In Reference Module in Biomedical Research, 2014. https://doi.org/10.1016/B978-0-12-801238-3.05565-3.Full Text
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Kishnani, P. S. “Glycogen Storage Diseases.” In Encyclopedia of the Neurological Sciences, 454–59, 2014. https://doi.org/10.1016/B978-0-12-385157-4.00083-X.Full Text
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Demo, E., D. D. Koeberl, and P. S. Kishnani. “Lysosomal storage and transport disorders.” In Garner and Klintworth’s Pathobiology of Ocular Disease Part B, Third Edition, 857–68, 2007.
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Kishnani, Priya. “Glycogen storage diseases and other inherited disorders of carbohydrate metabolism (Submitted).” In Harrison’s Principles of Internal Medicine, edited by Priya J. Larry Jameson, Anthony S. Fauci, Dennis L. Kasper, Stephen L. Hauser, Dan L. Longo, Joseph Loscalzo. McGraw-Hill, n.d.
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Korlimarla, Aditi, Rebecca Gibson, and Priya Kishnani. “Glycogen storage diseases (Submitted).” In Nutrition Management of Inherited Metabolic Diseases, Met Ed, n.d.
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Digital Publications
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Korlimarla, Aditi, and Priya S. Kishnani. “Pompe disease.” In: Roos RP, Editor-in-Chief. MedLink Neurology. San Diego: MedLink LLC., December 21, 2021.Link to Item
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Korlimarla, Aditi, and Priya Kishnani. “Pompe disease.” MedLink Neurology. MedLink Corporation, San Diego, October 1, 2020.Link to Item
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Kishnani, Priya. “Pompe disease.” MedLink Neurology, MedLink Corporation, San Diego, February 1, 2018.Link to Item
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Conference Papers
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Goomber, Shelly, Erin Huggins, Catherine Rehder, Jennifer L. Cohen, Deeksha Bali, and Priya Kishnani. “eP014: Establishment of a clinically validated in vitro functional assay to score pathogenicity of novel GAA variants in Pompe patients.” In Genetics in Medicine, 24:S9–10. Elsevier BV, 2022. https://doi.org/10.1016/j.gim.2022.01.052.Full Text
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Kishnani, Priya, Drago Bratkovic, Barry Byrne, Jordi Díaz-Manera, Pascal Laforêt, Tahseen Mozaffar, Ans van der Ploeg, et al. “eP157: Efficacy and safety of cipaglucosidase alfa/miglustat versus alglucosidase alfa/placebo in late-onset Pompe disease: PROPEL study.” In Genetics in Medicine, 24:S96–S96. Elsevier BV, 2022. https://doi.org/10.1016/j.gim.2022.01.193.Full Text
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Kronn, David, James Davison, Anaïs Brassier, Alexander Broomfield, Si Houn Hahn, Satoko Kumada, François Labarthe, et al. “OP016: Mini-COMET: Safety and efficacy of ≥97 weeks’ avalglucosidase alfa in infantile-onset Pompe disease participants previously treated with alglucosidase alfa.” In Genetics in Medicine, 24:S348–49. Elsevier BV, 2022. https://doi.org/10.1016/j.gim.2022.01.566.Full Text
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Paschall, Anna, Alisha Mavis, Aruna Rikhi, Vikrant Sood, Gilda Porta, Sheela Nampoothiri, Neerja Gupta, Jose Abdenur, Andrew Muir, and Priya Kishnani. “eP208: GSD IX natural history and novel liver disease severity score: Multicenter international collaboration uncovers longitudinal trends in liver disease severity.” In Genetics in Medicine, 24:S129–30. Elsevier BV, 2022. https://doi.org/10.1016/j.gim.2022.01.244.Full Text
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Smith, Sara, Erica Fox, Liliya Euro, Sebastian Soidinsalo, Jana Buzkova, Jari Narhi, Ravindra Kolhe, et al. “eP032: Measurement of Nicotinamide Adenine Dinucleotide (NAD+) from dried blood spot cards.” In Genetics in Medicine, 24:S21–22. Elsevier BV, 2022. https://doi.org/10.1016/j.gim.2022.01.070.Full Text
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Byrne, Barry, Drago Bratkovic, Jordi Díaz-Manera, Pascal Laforêt, Tahseen Mozaffar, Ans van der Ploeg, Mark Roberts, et al. “Cipaglucosidase alfa/miglustat versus alglucosidase alfa/placebo in late-onset Pompe disease (LOPD): PROPEL study subgroup analyses.” In Molecular Genetics and Metabolism, 135:S27–28. Elsevier BV, 2022. https://doi.org/10.1016/j.ymgme.2021.11.054.Full Text
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Chien, Yin-Hsiu, Elfrida Benjamin, Benedikt Schoser, Priya Kishnani, Tahseen Mozaffar, Jordi Díaz-Manera, Franklin Johnson, et al. “Immunogenicity of cipaglucosidase alfa/miglustat versus alglucosidase alfa/placebo in late-onset Pompe disease (LOPD): A phase III, randomized study (PROPEL).” In Molecular Genetics and Metabolism, 135:S30–S30. Elsevier BV, 2022. https://doi.org/10.1016/j.ymgme.2021.11.062.Full Text
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Cohen, Jennifer L., Pranesh Chakraborty, Karen Fung-Kee-Fung, Marisa E. Schwab, Deeksha Bali, Sarah Young, Michael H. Gelb, et al. “In utero enzyme replacement therapy in a fetus with infantile-onset Pompe disease.” In Molecular Genetics and Metabolism, 135:S33–S33. Elsevier BV, 2022. https://doi.org/10.1016/j.ymgme.2021.11.070.Full Text
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Huggins, Erin, Maggie Holland, Laura E. Case, Janet Blount, Andrew P. Landstrom, Harrison N. Jones, and Priya S. Kishnani. “Early clinical phenotype of late-onset Pompe disease: Lessons learned from newborn screening.” In Molecular Genetics and Metabolism, 135:S57–S57. Elsevier BV, 2022. https://doi.org/10.1016/j.ymgme.2021.11.141.Full Text
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Kishnani, Priya S., Susan Richards, Zuhair Nassair Al-Hassnan, Massimiliano Filosto, Andreas Hahn, Merrilee Needham, Sabrina Sacconi, et al. “Avalglucosidase alfa immunogenicity in alglucosidase alfa-experienced participants with Pompe disease: Pooled analysis of clinical trial data.” In Molecular Genetics and Metabolism, 135:S67–68. Elsevier BV, 2022. https://doi.org/10.1016/j.ymgme.2021.11.169.Full Text
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Kishnani, Priya, Jordi Díaz-Manera, Hani Kushlaf, Shafeeq Ladha, Tahseen Mozaffar, Volker Straub, Antonio Toscano, et al. “The avalglucosidase alfa phase 3 COMET trial in late-onset Pompe disease patients: Efficacy and safety results after 97 weeks.” In Molecular Genetics and Metabolism, 135:S66–67. Elsevier BV, 2022. https://doi.org/10.1016/j.ymgme.2021.11.168.Full Text
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Korlimarla, Aditi, Walter Wiggins, Michael Malinzak, James M. Provenzale, and Priya S. Kishnani. “Seizures in infantile Pompe disease: Expanding our understanding of the clinical spectrum.” In Molecular Genetics and Metabolism, 135:S68–S68. Elsevier BV, 2022. https://doi.org/10.1016/j.ymgme.2021.11.170.Full Text
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Kronn, David, James Davison, Anaïs Brassier, Alexander Broomfield, Si Houn Hahn, Satoko Kumada, François Labarthe, et al. “Mini-COMET study: Safety, biomarker, and efficacy data after avalglucosidase alfa dosing for ≥ 97 weeks in participants with infantile-onset pompe disease (IOPD) previously treated with alglucosidase alfa who had demonstrated clinical decline.” In Molecular Genetics and Metabolism, 135:S68–S68. Elsevier BV, 2022. https://doi.org/10.1016/j.ymgme.2021.11.171.Full Text
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Michl, Emma, Kristin Bonello, Suellen Moli Yin, Priya S. Kishnani, and Stephanie Sacharow. “Early presentation with late-onset Pompe disease genotype due to a genetic modifier: Lessons from newborn screening.” In Molecular Genetics and Metabolism, 135:S83–S83. Elsevier BV, 2022. https://doi.org/10.1016/j.ymgme.2021.11.214.Full Text
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Murala, Sireesha, Aditi Korlimarla, Steven Chen, and Priya S. Kishnani. “Diffusion tensor imaging (DTI) findings in children with Pompe disease: Insights into white matter hyperintensities from a longitudinal study.” In Molecular Genetics and Metabolism, 135:S87–S87. Elsevier BV, 2022. https://doi.org/10.1016/j.ymgme.2021.11.224.Full Text
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Dahir, Kathryn, Gabriel Angel Martos-Moreno, Agnes Linglart, Anna Petryk, Priya Kishnani, Cheryl Rockman-Greenberg, Samantha Martel, Keiichi Ozono, Wolfgang Hoegler, and Lothar Seefried. “Disease Characteristics, Disability, and Quality of Life in Adult HPP patients with Muscular Symptoms and Pain without Skeletal Manifestations - A Cross-Sectional Analysis from the Global HPP Registry.” In Journal of Bone and Mineral Research, 37:317–317, 2022.Link to Item
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Gibson, Rebecca A., Jeong-A Lim, Su Jin Choi, Deeksha Bali, Sarah Young, Rebecca Koch, Baodong Sun, Aravind Asokan, and Priya S. Kishnani. “SEVERE PROGRESSION OF LIVER DISEASE IN AN AGING PHKG2(-/-) MOUSE MODEL RECAPITULATES GSD IX G2 PATIENT PHENOTYPE.” In Molecular Genetics and Metabolism, 135:272–272, 2022.Link to Item
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Gibson, Rebecca A., Jeong-A Lim, Su Jin Choi, Rebecca L. Koch, Deeksha Bali, Sarah Young, William Jeck, Baodong Sun, Aravind Asokan, and Priya S. Kishnani. “Liver Directed AAV Gene Therapy Reverses Progression of Glycogen Storage Disease Type IX gamma 2 in Mice.” In Molecular Therapy, 30:478–79, 2022.Link to Item
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Hijazi, Ghada, Anna Paschall, Sarah P. Young, Brian Smith, Laura E. Case, Tracy Boggs, Sathya Amarasekara, et al. “A RETROSPECTIVE LONGITUDINAL STUDY AND COMPREHENSIVE REVIEW OF ADULT PATIENTS WITH GLYCOGEN STORAGE DISEASE TYPE III.” In Molecular Genetics and Metabolism, 135:275–76, 2022.Link to Item
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Lim, Jeong-A, Su Jin Choi, Priya S. Kishnani, and Baodong Sun. “Long-Term Correction of Glycogen Storage Disease Type III by AAV-Mediated Gene Therapy Using a Dual Promoter to Express Bacterial Pullulanase.” In Molecular Therapy, 30:119–20, 2022.Link to Item
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Smith, Edward C., Sam Hopkins, Laura E. Case, Martin K. Childers, Sang-Oh Han, Tracy G. Spears, Christoph P. Hornik, Deeksha Bali, Priya S. Kishnani, and Dwight D. Koeberl. “Phase 1 Study of Gene Therapy in Late-Onset Pompe Disease: Initial 104-Week Experience.” In Molecular Therapy, 30:563–64, 2022.Link to Item
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Yi, Haiqing, Jeong-A Lim, Priya S. Kishnani, and Baodong Sun. “AAV Gene Therapy Effectively Transduces the Central Nervous System and Prevents Polyglucosan Body Formation in Adult Polyglucosan Body Disease Mice.” In Molecular Therapy, 30:467–68, 2022.Link to Item
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Gibson, Rebecca A., Jeong-A Lim, Su Jin Choi, Leticia Flores, Lani Clinton, Deeksha Bali, Sarah Young, Aravind Asokan, Baodong Sun, and Priya S. Kishnani. “Characterization of liver GSD IX γ2 pathophysiology in a novel Phkg2-/- mouse model.” In Molecular Genetics and Metabolism, 133:269–76, 2021. https://doi.org/10.1016/j.ymgme.2021.05.008.Full Text
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Choi, Su Jin, John Yi, Thomas F. Tedder, Dwight D. Koeberl, Priya S. Kishnani, and Baodong Sun. “Immunosuppression with bortezomib and anti-CD20 mAb is effective in reducing neutralizing antibodies to allow repeated AAV administration in mice.” In Molecular Genetics and Metabolism, 132:S25–26. Elsevier BV, 2021. https://doi.org/10.1016/j.ymgme.2020.12.041.Full Text
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Cohen, Jennifer L., Ankit Desai, Cindy Li, Erin Huggins, Gabrielle Cooper, Vikas Bhambhani, Katherine Dempsey, et al. “Early diagnosis and treatment of infantile-onset Pompe disease via newborn screen.” In Molecular Genetics and Metabolism, 132:S26–27. Elsevier BV, 2021. https://doi.org/10.1016/j.ymgme.2020.12.044.Full Text
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Davison, James, Anaïs Brassier, Alexander Broomfield, Yin-Hsiu Chien, Si Houn Hahn, David Kronn, Satoko Kumada, et al. “Mini-COMET study: Effects of repeat avalglucosidase alfa dosing on ptosis in participants with infantile-onset Pompe disease (IOPD) who were previously treated with alglucosidase alfa.” In Molecular Genetics and Metabolism, 132:S31–32. Elsevier BV, 2021. https://doi.org/10.1016/j.ymgme.2020.12.058.Full Text
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Desai, Ankit K., Cindy Li, Punita Gupta, Katherine Dempsey, Vikas Bhambhani, Robert Hopkin, Can Ficicioglu, Pranoot Tanpaiboon, William J. Craigen, and Priya S. KIshnani. “Transforming the clinical outcomes in CRIM-negative infantile Pompe disease identified via newborn screening: The benefits of early treatment with enzyme replacement therapy and immune tolerance induction.” In Molecular Genetics and Metabolism, 132:S33–S33. Elsevier BV, 2021. https://doi.org/10.1016/j.ymgme.2020.12.062.Full Text
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Dimachkie, Mazen M., Richard J. Barohn, Barry Byrne, Ozlem Goker-Alpan, Priya S. Kishnani, Shafeeq Ladha, Pascal Laforêt, et al. “NEO1/NEO-EXT studies: Safety and exploratory efficacy of repeat avalglucosidase alfa dosing after up to 6 years in participants with late-onset pompe disease (LOPD).” In Molecular Genetics and Metabolism, 132:S34–S34. Elsevier BV, 2021. https://doi.org/10.1016/j.ymgme.2020.12.064.Full Text
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Goomber, Shelly, Haiqing Yi, Stephanie Austin, Catherine Rehder, Gregory Crawford, Deeksha Sarihyan Bali, and Priya Kishnani. “Functional analysis and clinical curation of human acid alpha glucosidase (GAA) variants of unknown significance (VUS) screened from infants diagnosed with Pompe disease via newborn screening (NBS).” In Molecular Genetics and Metabolism, 132:S45–S45. Elsevier BV, 2021. https://doi.org/10.1016/j.ymgme.2020.12.093.Full Text
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Kishnani, Priya S., Anaïs Brassier, Alexander Broomfield, James Davison, Si Houn Hahn, Satoko Kumada, François Labarthe, et al. “Mini-COMET study: Individual participant-level responses to treatment in patients with infantile-onset Pompe disease receiving repeated dose regimens of avalglucosidase alfa or alglucosidase alfa who were previously treated with alglucosidase alfa.” In Molecular Genetics and Metabolism, 132:S57–58. Elsevier BV, 2021. https://doi.org/10.1016/j.ymgme.2020.12.128.Full Text
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Kishnani, Priya S., Shahram Attarian, Joao Lindolfo Borges, Francoise Bouhour, Yin-Hsiu Chien, Young-Chul Choi, Paula Clemens, et al. “Efficacy and safety results of the avalglucosidase alfa phase 3 COMET trial in late-onset Pompe disease patients.” In Molecular Genetics and Metabolism, 132:S57–S57. Elsevier BV, 2021. https://doi.org/10.1016/j.ymgme.2020.12.127.Full Text
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Ryan, Emory, Grisel Lopez, Manisha Balwani, Deborah Barbouth, T Andrew Burrow, Edward Ginns, Ozlem Goker-Alpan, et al. “COVID-19 patient impact: A survey of the Gaucher community involving patients, caregivers and family members based in the US to determine impact of the pandemic.” In Molecular Genetics and Metabolism, 132:S93–S93. Elsevier BV, 2021. https://doi.org/10.1016/j.ymgme.2020.12.223.Full Text
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Schwab, Marisa E., Jennifer L. Cohen, Billie Lianoglou, Renata C. Gallagher, Juan M. Gonzalez-Velez, Teresa N. Sparks, Mary E. Norton, et al. “In utero enzyme replacement therapy in fetuses with lysosomal diseases: A phase I clinical trial.” In Molecular Genetics and Metabolism, 132:S96–S96. Elsevier BV, 2021. https://doi.org/10.1016/j.ymgme.2020.12.231.Full Text
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Byrne, Barry J., Drago Bratkovic, Pascal Laforet, Tahseen Mozaffar, Ans van der Ploeg, Mark Roberts, Benedikt Schoser, et al. “EFFICACY AND SAFETY OF CIPAGLUCOSIDASE ALFA/MIGLUSTAT VERSUS ALGLUCOSIDASE ALFA/PLACEBO IN LATE-ONSET POMPE DISEASE: A PHASE 3 TRIAL (PROPEL).” In Muscle & Nerve, 64:S64–65, 2021.Link to Item
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Choi, Su Jin, John Yi, Thomas F. Tedder, Dwight D. Koeberl, Priya S. Kishnani, and Baodong Sun. “Depletion of Pre-Existing Anti-AAV Neutralizing Antibodies by a Combination Immunosuppressive Treatment with Bortezomib and CD20 mAb Allows Successful Vector Re-Administration in Mice.” In Molecular Therapy, 29:361–361, 2021.Link to Item
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Gibson, Rebecca, Jeong-A Lim, Su Jin Choi, Leticia Flores, Lani Clinton, Deeksha Bali, Sarah Young, Aravind Asokan, Baodong Sun, and Priya Kishnani. “Characterization of Liver Pathology in a Novel GSD IX y2 Mouse Model.” In Molecular Therapy, 29:239–239, 2021.Link to Item
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Huggins, Erin, Maggie Holland, Stephanie Austin, Janet Blount, Jennifer L. Cohen, Laura Case, and Priya Kishnani. “Clinical characterization of 20 infants diagnosed with late-onset Pompe disease after positive newborn screening.” In Molecular Genetics and Metabolism, 132:S28–29, 2021.Link to Item
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Kishnani, Priya, Alexander Broomfield, James Davison, Francois Labarthe, Anais Brassier, Si Houn Hahn, Satoko Kumada, et al. “Mini-COMET: Individual-level treatment responses in infantile-onset Pompe disease participants receiving avalglucosidase alfa or alglucosidase alfa who previously received alglucosidase alfa.” In Molecular Genetics and Metabolism, 132:S75–76, 2021.Link to Item
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Kushlaf, Hani, Shahram Attarian, Joao Lindolfo Borges, Francoise Bouhour, Yin-Hsiu Chien, Young-Chul Choi, Paula Clemens, et al. “Efficacy and Safety Results of the Avalglucosidase alfa Phase 3 COMET Trial in Late-Onset Pompe Disease Patients.” In Neurology, Vol. 96, 2021.Link to Item
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Lim, Jeong-A, Priya S. Kishnani, and Baodong Sun. “AAV-Mediated Gene Therapy Using a Novel Dual Promoter Prevents Pullulanase-Induced Cytotoxic T Lymphocyte Response and Corrects Major Affected Tissues in GSD IIIa Mice.” In Molecular Therapy, 29:235–36, 2021.Link to Item
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Martos-Moreno, Gabriel, Agnes Linglart, Anna Petryk, Priya Kishnani, Cheryl Rockman-Greenberg, Kathryn Dahir, Lothar Seefried, Shona Fang, Keiichi Ozono, and Wolfgang Hogler. “Real-world clinical profiles of children with hypophosphatasia (HPP) from the Global HPP Registry.” In Hormone Research in Paediatrics, 94:72–72, 2021.Link to Item
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Mendez, Roberto, Deeksha Bali, Ashlee Stiles, Haoyue Zhang, Cindy Li, Janet Blount, Catherine Rehder, Priya Kishnani, and Sarah Young. “Urinary glucose tetrasaccharide correlates with phenotype in Pompe disease in the newborn period.” In Molecular Genetics and Metabolism, 132:S11–12, 2021.Link to Item
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Prakalapakorn, S Grace, James Davison, Alexander Broomfield, David Kronn, Francois Labarthe, Anais Brassier, Si Houn Hahn, et al. “Mini-COMET: effects of avalglucosidase alfa on ptosis in participants with infantile-onset Pompe disease previously treated with alglucosidase alfa.” In Molecular Genetics and Metabolism, 132:S137–S137, 2021.Link to Item
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Seefried, Lothar, Kathryn Dahir, Priya Kishnani, Anna Petryk, Wolfgang Hoegler, Agnes Linglart, Gabriel Martos-Moreno, Keiichi Ozono, Shona Fang, and Cheryl Rockman-Greenberg. “Real-world Clinical Profiles of Adults With Hypophosphatasia (HPP) from the Global HPP Registry.” In Journal of Rheumatology, 48:1134–35, 2021.Link to Item
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Smith, Sara, Taraka Donti, Erica Fox, Ravindra Kolhe, Gordon Worley, Priya Kishnani, and Madhuri Hegde. “Improved sample collection method for nicotinamide adenine dinucleotide measurement from whole blood.” In Molecular Genetics and Metabolism, 132:S25–26, 2021.Link to Item
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Aranda, Carolina, Mariana Gouveia-Pereira, Marina França, Marco Curiati, Dirceu Sole, Priya Kishnani, and Ana Maria Martins. “Infantile-onset Pompe disease and CRIM negative status: Immunomodulation with intravenous immunoglobulin as an alternative for regular immune tolerance induction.” In Molecular Genetics and Metabolism, 129:S22–S22. Elsevier BV, 2020. https://doi.org/10.1016/j.ymgme.2019.11.028.Full Text
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Austin, Stephanie, Alejandro Iglesias, Can Ficicioglu, Jaya Ganesh, David Kronn, and Priya Kishnani. “Complicated cases and the need for individualized follow up plans for children diagnosed with Pompe disease via newborn screening.” In Molecular Genetics and Metabolism, 129:S24–S24. Elsevier BV, 2020. https://doi.org/10.1016/j.ymgme.2019.11.032.Full Text
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Austin, Stephanie, Priya Kishnani, Laura Case, Robin Lachmann, Matt Appleby, Tahseen Mozaffar, Jenny Avelar, Marie Wencel, Manisha Kak, and Hal Landy. “Extended treatment with VAL-1221, a novel protein targeting cytoplasmic glycogen, in patients with late-onset Pompe disease.” In Molecular Genetics and Metabolism, 129:S24–S24. Elsevier BV, 2020. https://doi.org/10.1016/j.ymgme.2019.11.033.Full Text
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Desai, Ankit K., Cindy Li, Amy S. Rosenberg, and Priya S. Kishnani. “Benefits of prophylactic short-course immunomodulation in patients with infantile Pompe disease: Demonstration of long-term safety and efficacy in a large cohort.” In Molecular Genetics and Metabolism, 129:S48–S48. Elsevier BV, 2020. https://doi.org/10.1016/j.ymgme.2019.11.104.Full Text
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Dimachkie, Mazen M., Richard J. Barohn, Barry Byrne, Ozlem Goker-Alpan, Priya S. Kishnani, Shafeeq Ladha, Pascal Laforêt, et al. “NEO1 and NEO-EXT studies: Long-term safety and exploratory efficacy of repeat avalglucosidase alfa dosing for 5.5 years in late-onset Pompe disease patients.” In Molecular Genetics and Metabolism, 129:S49–S49. Elsevier BV, 2020. https://doi.org/10.1016/j.ymgme.2019.11.107.Full Text
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Khan, Aleena A., Laura E. Case, Mrudu Herbert, Stephanie DeArmey, Harrison Jones, Kelly Crisp, Kanecia Zimmerman, Mai K. ElMallah, and Priya S. Kishnani. “Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease.” In Molecular Genetics and Metabolism, 129:S88–S88. Elsevier BV, 2020. https://doi.org/10.1016/j.ymgme.2019.11.219.Full Text
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Khan, Aleena A., Tracy Boggs, Michael Bowling, Stephanie Austin, Mihaela Stefanescu, Laura Case, and Priya S. Kishnani. “Whole-body MRI in late-onset Pompe disease: Clinical utility and correlation with functional measures.” In Molecular Genetics and Metabolism, 129:S88–S88. Elsevier BV, 2020. https://doi.org/10.1016/j.ymgme.2019.11.218.Full Text
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Kim, Katherine H., Erika Vucko, Ankit K. Desai, Priya Kishnani, and Barbara K. Burton. “Development of high sustained IgG antibody titers and corresponding clinical decline in an adolescent with atypical infantile Pompe disease after 11+ years on enzyme replacement therapy with alglucosidase alfa.” In Molecular Genetics and Metabolism, 129:S89–S89. Elsevier BV, 2020. https://doi.org/10.1016/j.ymgme.2019.11.221.Full Text
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Koeberl, Dwight, Edward C. Smith, Laura E. Case, Sam Hopkins, Martin K. Childers, Crista Walters, Sang-oh Han, et al. “A phase 1 study of gene therapy with ACTUS-101 in late-onset Pompe disease.” In Molecular Genetics and Metabolism, 129:S91–S91. Elsevier BV, 2020. https://doi.org/10.1016/j.ymgme.2019.11.227.Full Text
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Korlimarla, Aditi, Steven Chen, Stephanie L. Austin, James M. Provenzale, and Priya S. Kishnani. “A new look at an old disease: Is Pompe disease a neuromuscular disorder with CNS involvement?” In Molecular Genetics and Metabolism, 129:S92–S92. Elsevier BV, 2020. https://doi.org/10.1016/j.ymgme.2019.11.230.Full Text Open Access Copy
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Kronn, David, Anaïs Brassier, Alexander Broomfield, James Davison, Sihoun Hahn, Priya S. Kishnani, Satoko Kumada, et al. “Mini-COMET study: Safety, immunogenicity, and preliminary efficacy for repeat avalglucosidase alfa dosing in patients with infantile-onset Pompe disease (IOPD) who were previously treated with alglucosidase alfa and demonstrated clinical decline.” In Molecular Genetics and Metabolism, 129:S92–S92. Elsevier BV, 2020. https://doi.org/10.1016/j.ymgme.2019.11.231.Full Text
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Choi, Su Jin, John Yi, Thomas F. Tedder, Dwight D. Koeberl, Priya S. Kishnani, and Baodong Sun. “A Combination Immunosuppression Treatment with Bortezomib and an Anti-CD20 mAb Enables Successful Re-Administration of AAV8 Vector in Mice.” In Molecular Therapy, 28:521–521, 2020.Link to Item
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Dahir, Kathryn M., Priya Kishnani, Anna Petryk, Wolfgang Hogler, Agnes Linglart, Gabriel Angel Martos-Moreno, Keiichi Ozono, Shona Fang, Cheryl Rockman-Greenberg, and Lothar Seefried. “Real-World Clinical Profiles of Adults With Hypophosphatasia (HPP) From the Global HPP Registry.” In Journal of Bone and Mineral Research, 35:47–47, 2020.Link to Item
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Dimachkie, Mazen, Richard Barohn, Barry Byrne, Ozlem Goker-Alpan, Priya Kishnani, Shafeeq Ladha, Pascal Laforet, et al. “NEO1 and NEO-EXT Studies: Long-Term Safety and Exploratory Efficacy of Repeat Avalglucosidase Alfa Dosing for 5.5 Years in Late-Onset Pompe Disease Patients.” In Neurology, Vol. 94, 2020.Link to Item
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Hobson-Webb, Lisa, Paul Zwelling, Ashley Pifer, and Priya Kishnani. “Home-Based Electrical Impedance Myography in Late-Onset Pompe Disease.” In Neurology, Vol. 94, 2020.Link to Item
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Koeberl, Dwight, Edward C. Smith, Laura Case, Sam Hopkins, Martin K. Childers, Stephanie Dearmey, Crista Walters, et al. “Phase 1 Study of Gene Therapy in Late-Onset Pompe Disease: Analyses of Safety and Secondary Endpoints.” In Molecular Therapy, 28:224–224, 2020.Link to Item
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Lim, Jeong-A, Su Jin Choi, Fengqin Gao, Priya S. Kishnani, and Baodong Sun. “AAV-Mediated Gene Therapy for Glycogen Storage Disease Type III Using a Bacterial Glycogen Debranching Enzyme.” In Molecular Therapy, 28:307–8, 2020.Link to Item
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Yi, Haiqing, Tao Sun, Fengqin Gao, Priya S. Kishnani, and Baodong Sun. “Transgene Immunogenicity Has Significant Effects on Gene Therapy in a Mouse Model of Adult Polyglucosan Body Disease.” In Molecular Therapy, 28:263–263, 2020.Link to Item
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Dahir, Kathryn, Margo Black, Lauren Flueckinger, Seung-Hye Jung, Priya Kishnani, Anna Petryk, Megan Teynor, and Qunming Dong. “Clinical Burden in Adults with Pediatric-Onset Hypophosphatasia: a Retrospective Chart Review.” In Journal of Bone and Mineral Research, 34:371–371. WILEY, 2019.Link to Item
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Dahir, Kathryn, Margo Black, Lauren Flueckinger, Seung-Hye Jung, Priya Kishnani, Anna Petryk, Megan Teynor, and Qunming Dong. “Clinical Burden in Adults with Pediatric-Onset Hypophosphatasia: a Retrospective Chart Review.” In Journal of Bone and Mineral Research, 34:371–371. WILEY, 2019.Link to Item
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Dimachkie, Mazen, Richard Barohn, Priya Kishnani, Shafeeq Ladha, Karl Eugen Mengel, Loren D. M. Pena, Sabrina Sacconi, et al. “NEO1 AND NEO-EXT STUDIES: PHARMACODYNAMIC/EXPLORATORY BIOMARKER AND SAFETY ASSESSMENTS FOLLOWING REPEAT AVALGLUCOSIDASE ALFA DOSING FOR UP TO 4.5 YEARS IN PATIENTS WITH LATE-ONSET POMPE DISEASE.” In Muscle & Nerve, 60:S48–49. WILEY, 2019.Link to Item
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Brooks, Elizabeth D., Haiqing Yi, Baodong Sun, Jeong-A Lim, Carine A. Halaby, Lani K. Clinton, Alisha M. Mavis, et al. “COMPARATIVE LIVER PATHOLOGY IN GLYCOGEN STORAGE DISEASE TYPE IIIA.” In Molecular Genetics and Metabolism, 127:256–57. ACADEMIC PRESS INC ELSEVIER SCIENCE, 2019.Link to Item
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Hannah, William B., Laura E. Case, Crista Walters, Priya S. Kishnani, and Dwight D. Koeberl. “SUMMARY OF SCREENING DATA FROM 19 PATIENTS WITH LATE-ONSET POMPE DISEASE FOR A PHASE I CLINICAL TRIAL OF AAV VECTOR-MEDIATED GENE THERAPY.” In Molecular Genetics and Metabolism, 127:274–274. ACADEMIC PRESS INC ELSEVIER SCIENCE, 2019.Link to Item
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Young, Sarah, Haoyue Zhang, James Beasley, Patricia McCaw, Deeksha Bali, Seung-Hye Jung, Priya Kishnani, and Ashlee Stiles. “EVALUATION OF PLASMA GLUCOSYLSPHINGOSINE AND GALACTOSYLSPHINGOSINE IN PATIENTS WITH GAUCHER DISEASE.” In Molecular Genetics and Metabolism, 127:312–13. ACADEMIC PRESS INC ELSEVIER SCIENCE, 2019.Link to Item
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Desai, Ankit, Zoheb Kazi, Deeksha Bali, Catherine Rehder, Amy Rosenberg, and Priya Kishnani. “CHANGING THE CLINICAL COURSE OF INFANTILE POMPE DISEASE WITH IMMUNE MODULATION STRATEGIES: 12 YEARS OF EXPERIENCE.” In Molecular Genetics and Metabolism, 127:243–243. ACADEMIC PRESS INC ELSEVIER SCIENCE, 2019.Link to Item
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Halaby, Carine A., Sarah Young, Ela Stefanescu, Stephanie Austin, Deeksha Bali, Jariya Upadia, Lani K. Clinton, Brian Smith, Alisha Mavis, and Priya Kishnani. “LIVER DISEASE PROGRESSION DURING CHILDHOOD IN GLYCOGEN STORAGE DISEASE TYPE III: THE NEED FOR SYSTEMATIC MONITORING.” In Molecular Genetics and Metabolism, 127:273–74. ACADEMIC PRESS INC ELSEVIER SCIENCE, 2019.Link to Item
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Korlimarla, Aditi, Ela Stefanescu, Stephanie Austin, Steven Chen, James M. Provenzale, and Priya S. Kishnani. “QUANTITATIVE EVALUATION OF WHITE MATTER HYPERINTENSITIES IN THE CENTRAL NERVOUS SYSTEM IN INFANTILE POMPE DISEASE.” In Molecular Genetics and Metabolism, 127:279–279. ACADEMIC PRESS INC ELSEVIER SCIENCE, 2019.Link to Item
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Lim, Jeong-A, Su Jin Choi, Fengqin Gao, Priya Kishnani, and Baodong Sun. “Correction of Glycogen Storage Disease Type III with an AAV Vector Encoding a Bacterial Glycogen Debranching Enzyme.” In Molecular Therapy, 27:17–17. CELL PRESS, 2019.Link to Item
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Dimachkie, Mazen M., Richard J. Barohn, Priya S. Kishnani, Shafeeq Ladha, Karl Eugen Mengel, Loren D. M. Pena, Sabrina Sacconi, et al. “NEO1 and NEO-EXT Studies: Long-Term Safety of Repeat Avalglucosidase Alfa Dosing for 4.5 Years in Patients With Late-Onset Pompe Disease.” In Neurology, Vol. 92. LIPPINCOTT WILLIAMS & WILKINS, 2019.Link to Item
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Brooks, Elizabeth D., Haiqing Yi, Baodong Sun, Jeong-A Lim, Carine A. Halaby, Lani K. Clinton, Alisha M. Mavis, et al. “COMPARATIVE LIVER PATHOLOGY IN GLYCOGEN STORAGE DISEASE TYPE IIIA.” In Molecular Genetics and Metabolism, 126:291–291. ACADEMIC PRESS INC ELSEVIER SCIENCE, 2019.Link to Item
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Young, Sarah, Haoyue Zhang, James Beasley, Patricia McCaw, Deeksha Bali, Seung-Hye Jung, Priya Kishnani, and Ashlee Stiles. “EVALUATION OF PLASMA GLUCOSYLSPHINGOSINE AND GALACTOSYLSPHINGOSINE IN PATIENTS WITH GAUCHER DISEASE.” In Molecular Genetics and Metabolism, 126:336–336. ACADEMIC PRESS INC ELSEVIER SCIENCE, 2019.Link to Item
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Desai, Ankit, Zoheb Kazi, Deeksha Bali, Catherine Rehder, Amy Rosenberg, and Priya Kishnani. “CHANGING THE CLINICAL COURSE OF INFANTILE POMPE DISEASE WITH IMMUNE MODULATION STRATEGIES: 12 YEARS OF EXPERIENCE.” In Molecular Genetics and Metabolism, 126:280–280. ACADEMIC PRESS INC ELSEVIER SCIENCE, 2019.Link to Item
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Halaby, Carine A., Sarah Young, Ela Stefanescu, Stephanie Austin, Deeksha Bali, Jariya Upadia, Lani K. Clinton, Brian Smith, Alisha Mavis, and Priya Kishnani. “LIVER DISEASE PROGRESSION DURING CHILDHOOD IN GLYCOGEN STORAGE DISEASE TYPE III: THE NEED FOR SYSTEMATIC MONITORING.” In Molecular Genetics and Metabolism, 126:305–305. ACADEMIC PRESS INC ELSEVIER SCIENCE, 2019.Link to Item
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Hannah, William B., Laura E. Case, Crista Walters, Priya S. Kishnani, and Dwight D. Koeberl. “SUMMARY OF SCREENING DATA FROM 19 PATIENTS WITH LATE-ONSET POMPE DISEASE FOR A PHASE I CLINICAL TRIAL OF AAV VECTOR-MEDIATED GENE THERAPY.” In Molecular Genetics and Metabolism, 126:305–6. ACADEMIC PRESS INC ELSEVIER SCIENCE, 2019.Link to Item
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Korlimarla, Aditi, Ela Stefartescu, Stephanie Austin, Steven Chen, James M. Provenzale, and Priya S. Kishnani. “Quantitative evaluation of white matter hyperintensities in CNS in children with Pompe disease.” In Molecular Genetics and Metabolism, 126:309–309. Elsevier, 2019.Link to Item
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Austin, Stephanie, Mrudu Herbert, Laura Case, Mugdha Rairikar, Heidi Cope, Lauren Flueckinger, and Priya Kishnani. “Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32-13T>G variant.” In Molecular Genetics and Metabolism, 126:S26–S26. Elsevier BV, 2019. https://doi.org/10.1016/j.ymgme.2018.12.044.Full Text
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Clemens, Paula R., Tahseen Mozaffar, Benedikt Schoser, Drago Bratkovic, Barry J. Byrne, Ozlem Goker-Alpan, Mark Roberts, et al. “Safety and efficacy of advanced and targeted acid α-glucosidase (AT-GAA) (ATB200/AT2221) in ERT-switch nonambulatory patients with Pompe disease: preliminary results from the ATB200-02 trial.” In Molecular Genetics and Metabolism, 126:S40–41. Elsevier BV, 2019. https://doi.org/10.1016/j.ymgme.2018.12.084.Full Text
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Desai, Ankit K., Zoheb B. Kazi, Deeksha S. Bali, Catherine W. Rehder, Susan Richards, Amy S. Rosenberg, and Priya S. Kishnani. “Changing the clinical course of infantile Pompe disease with immune modulation strategies: 12 years of experience.” In Molecular Genetics and Metabolism, 126:S48–S48. Elsevier BV, 2019. https://doi.org/10.1016/j.ymgme.2018.12.106.Full Text
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Flueckinger, Lauren B., and Priya S. Kishnani. “Evolving challenges in the era of newborn screening for Pompe disease.” In Molecular Genetics and Metabolism, 126:S54–55. Elsevier BV, 2019. https://doi.org/10.1016/j.ymgme.2018.12.123.Full Text
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Kishnani, Priya, Benedikt Schoser, Drago Bratkovic, Barry J. Byrne, Paula R. Clemens, Ozlem Goker-Alpan, Xue Ming, et al. “First-in-human study of advanced and targeted acid α-glucosidase (AT-GAA) (ATB200/AT2221) in patients with Pompe disease: preliminary functional assessment results from the ATB200-02 trial.” In Molecular Genetics and Metabolism, 126:S86–S86. Elsevier BV, 2019. https://doi.org/10.1016/j.ymgme.2018.12.212.Full Text
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Kishnani, Priya, Robin Lachmann, Tahseen Mozaffar, Crista Walters, Laura Case, Matt Appleby, Vincenzo Libri, Manisha Kak, Marie Wencel, and Hal Landy. “Safety and efficacy of VAL-1221, a novel fusion protein targeting cytoplasmic glycogen, in patients with late-onset Pompe disease.” In Molecular Genetics and Metabolism, 126:S85–86. Elsevier BV, 2019. https://doi.org/10.1016/j.ymgme.2018.12.211.Full Text
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Korlimarla, Aditi, Ela Stefanescu, Stephanie Austin, Steven Chen, James M. Provenzale, and Priya S. Kishnani. “Quantitative evaluation of white matter hyperintensities in the central nervous system in infantile Pompe disease.” In Molecular Genetics and Metabolism, 126:S87–S87. Elsevier BV, 2019. https://doi.org/10.1016/j.ymgme.2018.12.214.Full Text Open Access Copy
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Mistry, Pramod K., Manisha Balwani, Joel Charrow, Priya Kishnani, Claus Niederau, and Monica R. McClain. “Two years of efficacy of oral eliglustat in treatment-naïve and switch patients enrolled in the International Collaborative Gaucher Group Gaucher registry.” In Molecular Genetics and Metabolism, 126:S100–101. Elsevier BV, 2019. https://doi.org/10.1016/j.ymgme.2018.12.252.Full Text
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Pena, Loren, Richard J. Barohn, Mazen M. Dimachkie, Priya S. Kishnani, Shafeeq Ladha, Karl-Eugen Mengel, Sabrina Sacconi, et al. “NEO1 and NEO-EXT studies: Long-term safety of repeat avalglucosidase alfa dosing for 4.5 years in late-onset Pompe disease patients.” In Molecular Genetics and Metabolism, 126:S115–16. Elsevier BV, 2019. https://doi.org/10.1016/j.ymgme.2018.12.294.Full Text
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Schoser, Benedikt, Drago Bratkovic, Barry J. Byrne, Paula R. Clemens, Ozlem Goker-Alpan, Priya Kishnani, Xue Ming, et al. “Preliminary patient-reported outcomes and safety of advanced and targeted acid α-glucosidase (AT-GAA (ATB200/AT2221) in patients with Pompe disease from the ATB200-02 trial.” In Molecular Genetics and Metabolism, 126:S132–33. Elsevier BV, 2019. https://doi.org/10.1016/j.ymgme.2018.12.340.Full Text
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Stefanescu, Mihaela C., Gail A. Spiridigliozzi, Stephanie L. Austin, and Priya S. Kishnani. “Parent report of school functioning and behavior in children with Pompe disease.” In Molecular Genetics and Metabolism, 126:S138–S138. Elsevier BV, 2019. https://doi.org/10.1016/j.ymgme.2018.12.355.Full Text
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Stockton, David W., Matthias Boentert, Barry Byrne, Juan Llerena, Priya Kishnani, Mark Roberts, Ans van der Ploeg, et al. “Impact of time from diagnosis to treatment on lung function among patients with late-onset Pompe disease: Data from the Pompe registry.” In Molecular Genetics and Metabolism, 126:S140–S140. Elsevier BV, 2019. https://doi.org/10.1016/j.ymgme.2018.12.360.Full Text
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Woolgar, Kara, Daniel Julien, Holly Miller, Laura Pollard, Zoheb Kazi, Kristin Lindstrom, and Priya Kishnani. “Immune modulation for a female Hunter syndrome patient prior to starting idursulfase.” In Molecular Genetics and Metabolism, 126:S153–54. Elsevier BV, 2019. https://doi.org/10.1016/j.ymgme.2018.12.398.Full Text
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Brooks, Elizabeth D., Dustin J. Landau, Jeffrey I. Everitt, Talmage T. Brown, Kylie M. Grady, Lauren Waskowicz, Cameron R. Bass, et al. “Long-term complications of glycogen storage disease type Ia in the canine model treated with gene replacement therapy.” In J Inherit Metab Dis, 41:965–76, 2018. https://doi.org/10.1007/s10545-018-0223-y.Full Text Link to Item
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Seefried, Lothar, Wolfgang Hogler, Hugo Gomes Da Silva, Anna Petryk, Shona Fang, Agnes Linglart, Keiichi Ozono, Cheryl Rockman-Greenberg, Craig Langman, and Priya Kishnani. “Adults With Hypophosphatasia Enrolled in the Global HPP Registry Have Delayed Diagnosis and Systemic Manifestations of the Disease.” In Journal of Bone and Mineral Research, 33:322–322. WILEY, 2018.Link to Item
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Mozaffar, T., D. Bratkovic, B. J. Byrne, P. Clemens, T. Geberhiwot, O. Goker-Alpan, P. Kishnani, et al. “FIRST-IN-HUMAN STUDY OF AT-GAA (ATB200/AT2221) IN PATIENTS WITH POMPE DISEASE: PRELIMINARY RESULTS FROM THE ATB200-02 TRIAL.” In Muscle & Nerve, 58:S1–S1. WILEY, 2018.Link to Item
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Mozaffar, Tahseen, Drago Bratkovic, Barry Byrne, Paula Clemens, Tarekegn Geberhiwot, Ozlem Goker-Alpan, Priya Kishnani, et al. “First-in-human Study of ATB200/AT2221 in Patients with Pompe Disease: Preliminary Results From the ATB200-02 Trial.” In Neurology, Vol. 90. LIPPINCOTT WILLIAMS & WILKINS, 2018.Link to Item
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Updia, Jariya, Lauren B. Flueckinger, Kadiyala V. Ravindra, Carla W. Brady, Stephanie Austin, Surekha Pendyal, and Priya Kishnani. “A FIRST REPORT OF CHOLANGIOCARCINOMA IN GSD I.” In Molecular Genetics and Metabolism, 123:271–271. ACADEMIC PRESS INC ELSEVIER SCIENCE, 2018.Link to Item
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Updia, Jariya, Surekha Pendyal, Lauren Bailey, Dwight D. Koeberl, and Priya Kishnani. “CLINICAL COURSE AND OUTCOME IN ADULTS WITH PROPIONIC ACIDEMIA: CASE SERIES.” In Molecular Genetics and Metabolism, 123:271–72. ACADEMIC PRESS INC ELSEVIER SCIENCE, 2018.Link to Item
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Austin, Stephanie, Mugdha Rairikar, Laura Case, Lauren Bailey, Zoheb Kazi, Ankit Desai, Kathryn Berrier, et al. “Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T > G “late-onset” GAA variant.” In Molecular Genetics and Metabolism, 123:S21–S21. Elsevier BV, 2018. https://doi.org/10.1016/j.ymgme.2017.12.027.Full Text
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Desai, Ankit K., Zoheb B. Kazi, Angelika Erwin, Bradley Troxler, David Kronn, Seymour Packman, Marta Sabbadini, et al. “An immune tolerance approach using methotrexate in the naïve setting of patients treated with a therapeutic protein: Experience in infantile Pompe disease.” In Molecular Genetics and Metabolism, 123:S38–S38. Elsevier BV, 2018. https://doi.org/10.1016/j.ymgme.2017.12.080.Full Text
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Herbert, Mrudu, Gail A. Spiridigliozzi, Steven Chen, Mihaela Stefanescu, Stephanie L. Austin, James M. Provenzale, and Priya S. Kishnani. “Cognition and brain involvement in infantile Pompe disease.” In Molecular Genetics and Metabolism, 123:S62–S62. Elsevier BV, 2018. https://doi.org/10.1016/j.ymgme.2017.12.151.Full Text
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Johnson, Franklin K., Drago Bratkovic, Barry Byrne, Paula R. Clemens, Ozlem Goker-Alpan, Tarakegn Geberhiwot, Priya Kishnani, et al. “First-in-human preliminary pharmacokinetic data on a novel recombinant acid α-glucosidase, ATB200, co-administered with the pharmacological chaperone, AT2221, in patients with late-onset Pompe disease.” In Molecular Genetics and Metabolism, 123:S71–72. Elsevier BV, 2018. https://doi.org/10.1016/j.ymgme.2017.12.177.Full Text
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Jones, Harrison, Kelly Crisp, Jill Marcus, Milisa Batten, Ashley Edds, Lisa Hobson-Webb, Maragatha Kuchibhatla, and Priya Kishnani. “Respiratory muscle training in Pompe disease.” In Molecular Genetics and Metabolism, 123:S72–S72. Elsevier BV, 2018. https://doi.org/10.1016/j.ymgme.2017.12.179.Full Text
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Jones, Harrison, Kelly Crisp, Milisa Batten, Ashley Edds, Jill Marcus, Maragatha Kuchibhalta, Lisa Hobson-Webb, and Priya Kishnani. “Lingual pathophysiology in late-onset Pompe disease.” In Molecular Genetics and Metabolism, 123:S72–S72. Elsevier BV, 2018. https://doi.org/10.1016/j.ymgme.2017.12.178.Full Text
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Kazi, Zoheb, Ankit Desai, Rebecca Martin, Frances Terry, William Martin, Anne De Groot, and Priya Kishnani. “A prediction model to identify infantile Pompe disease (IPD) patients at high-risk of developing significant anti-drug antibodies (ADA) utilizing acid α-glucosidase (GAA ) variants and HLA-type.” In Molecular Genetics and Metabolism, 123:S76–S76. Elsevier BV, 2018. https://doi.org/10.1016/j.ymgme.2017.12.191.Full Text
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Koeberl, Dwight, Laura Case, Edward C. Smith, Yanzhen Li, Crista Walters, Christoph Hornik, Beth Thurberg, Deeksha Bali, Nenad Bursac, and Priya S. Kishnani. “Correction of biochemical abnormalities and gene expression associated with improved muscle function in a phase I/II clinical trial of clenbuterol in Pompe disease patients stably treated with ERT.” In Molecular Genetics and Metabolism, 123:S79–80. Elsevier BV, 2018. https://doi.org/10.1016/j.ymgme.2017.12.202.Full Text
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Patel, Nita, Priya Kishnani, Swati Sathe, Derek Dietze, Christopher Viereck, Jay A. Barth, and Sheela Sitaraman. “The patient and clinician point of view: living with late-onset Pompe disease.” In Molecular Genetics and Metabolism, 123:S114–15. Elsevier BV, 2018. https://doi.org/10.1016/j.ymgme.2017.12.307.Full Text
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Hogler, Wolfgang, Craig Langman, Hugo Gomes Da Silva, Shona Fang, Agnes Linglart, Keiichi Ozono, Anna Petryk, Cheryl Rockman-Greenberg, Lothar Seefried, and Priya Kishnani. “Disease Burden and Systemic Manifestations of HPP in Children Enrolled in the Global HPP Registry.” In Hormone Research in Paediatrics, 90:174–75. KARGER, 2018.Link to Item
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Austin, Stephanie L., Rachel D. Torok, Chanika Phornphutkul, Kathleen Rotondo, Anne F. Buckley, Gregory H. Tatum, Stephanie B. Wechsler, and Priya S. Kishnani. “PRKAG2 as a mimicker of Pompe disease.” In Molecular Genetics and Metabolism, 120:S23–S23. Elsevier BV, 2017. https://doi.org/10.1016/j.ymgme.2016.11.029.Full Text
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Bailey, Lauren A., Mugdha Rairikar, Ankit Desai, Zoheb Kazi, Laura Case, and Priya Kishnani. “A newborn screening dilemma: when to treat Pompe disease with c.-32-13T>/;G IVS splice site mutation.” In Molecular Genetics and Metabolism, 120:S24–S24. Elsevier BV, 2017. https://doi.org/10.1016/j.ymgme.2016.11.031.Full Text
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Ganesh, Jaya, Maria I. Scarano, Michael Hardiman, and Priya Kishnani. “Late-onset Pompe disease with atypical presentation: What else is going on?” In Molecular Genetics and Metabolism, 120:S49–50. Elsevier BV, 2017. https://doi.org/10.1016/j.ymgme.2016.11.105.Full Text
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Gupta, Punita, Brian Shayota, Alejandra Gomez, Lorien Tambini-King, Zoheb Kazi, and Priya S. Kishnani. “Early initiation of prophylactic immune tolerance induction and enzyme replacement therapy in prenatally diagnosed infantile onset Pompe disease with a CRIM-negative mutation.” In Molecular Genetics and Metabolism, 120:S60–S60. Elsevier BV, 2017. https://doi.org/10.1016/j.ymgme.2016.11.134.Full Text
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Ha, Christine I., Ankit K. Desai, Justin Waterfield, Zoheb B. Kazi, Stephanie L. Austin, Edward H. Bossen, Priya S. Kishnani, and Anne F. Buckley. “Outside the fiber: interstitial pathology of skeletal muscle in infantile Pompe disease.” In Molecular Genetics and Metabolism, 120:S60–61. Elsevier BV, 2017. https://doi.org/10.1016/j.ymgme.2016.11.136.Full Text
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Han, Sang-oh, Alexina C. Haynes, Songtao Li, Priya S. Kishnani, Richard Steet, and Dwight D. Koeberl. “Beneficial effects of carvedilol with enzyme replacement therapy in Pompe disease.” In Molecular Genetics and Metabolism, 120:S62–S62. Elsevier BV, 2017. https://doi.org/10.1016/j.ymgme.2016.11.142.Full Text
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Kishnani, Priya S., Mary Alice Abbott, Yin-Hsiu Chien, Paula R. Clemens, Virginia E. Kimonis, Nancy Leslie, Juan C. Llerena, et al. “Sequence variants and genotypes among 898 patients with Pompe disease: data from the Pompe Registry.” In Molecular Genetics and Metabolism, 120:S75–S75. Elsevier BV, 2017. https://doi.org/10.1016/j.ymgme.2016.11.179.Full Text
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Kishnani, Priya, Marisa Gayron, Andrew E. Denker, Eric Watsky, and Cheryl R. Rockman-Greenberg. “Biochemical and physical function outcomes in adults with pediatric-onset hypophosphatasia treated with asfotase alfa for up to 3 years: interim results from a Phase 2 study.” In Clinical Endocrinology, 86:66–66. WILEY-BLACKWELL, 2017.Link to Item
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Lim, Han-Hyuk, Haiqing Yi, Takashi K. Kishimoto, Fengqin Gao, Baodong Sun, and Priya S. Kishnani. “Immunomodulation to enzyme replacement therapy with tolerogenic nanoparticles containing rapamycin in a murine model of Pompe disease.” In Molecular Genetics and Metabolism, 120:S83–84. Elsevier BV, 2017. https://doi.org/10.1016/j.ymgme.2016.11.202.Full Text
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Schwartz, Ida Vanessa D., Ozlem Goker-Alpan, Priya Kishnani, Ari Zimran, Lydie Renault, Zoya Panahloo, and Patrick Deegan. “Characteristics of 27 patients with type 3 Gaucher disease: a descriptive analysis from the Gaucher Outcome Survey.” In Molecular Genetics and Metabolism, 120:S120–21. Elsevier BV, 2017. https://doi.org/10.1016/j.ymgme.2016.11.312.Full Text
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Stockton, David W., Kenneth I. Berger, Matthias Boentert, Barry Byrne, Priya S. Kishnani, Juan C. Llerena, Mark Roberts, Sonia Maruti, and Roberto Araujo. “Impact of earlier treatment on respiratory function in patients with late-onset Pompe disease: data from the Pompe Registry.” In Molecular Genetics and Metabolism, 120:S128–S128. Elsevier BV, 2017. https://doi.org/10.1016/j.ymgme.2016.11.335.Full Text
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Weinreb, Neal J., Julie Batista, Hans C. Andersson, Manisha Balwani, T. Andrew Burrow, Joel Charrow, Paige Kaplan, et al. “Transformation in pre-treatment presentations of Gaucher disease during the first two decades of imiglucerase enzyme replacement therapy: a report from the International Collaborative Gaucher Group Gaucher Registry.” In Molecular Genetics and Metabolism, 120:S139–S139. Elsevier BV, 2017. https://doi.org/10.1016/j.ymgme.2016.11.368.Full Text
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Mistry, Pramod, Neal J. Weinreb, Julie Batista, Hans C. Andersson, Manisha Balwani, Thomas Andrew Burrow, Joel Charrow, et al. “Transformation in Pre-Treatment Presentations of Gaucher Disease during the First Two Decades of Imiglucerase Enzyme Replacement Therapy: A Report from the International Collaborative Gaucher Group Gaucher Registry.” In Blood, 128:4877–4877. American Society of Hematology, 2016. https://doi.org/10.1182/blood.v128.22.4877.4877.Full Text
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Austin, Stephanie, Lisa Hobson-Webb, and Priya Kishnani. “SMALL FIBER NEUROPATHY IN A COHORT OF PATIENTS WITH GLYCOGEN STORAGE DISEASE TYPE III.” In Molecular Genetics and Metabolism, 117:243–243. ACADEMIC PRESS INC ELSEVIER SCIENCE, 2016.Link to Item
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Kishnani, Priya S., Sihoun Hahn, John W. Day, Michael J. Gambello, James B. Gibson, Richard Hillman, David Kronn, et al. “INFUSION-ASSOCIATED REACTIONS AND IMMUNOGENICITY IN THE ADVANCE STUDY OF ALGLUCOSIDASE ALFA PRODUCED AT 4000 L SCALE IN PATIENTS WITH POMPE DISEASE.” In Molecular Genetics and Metabolism, 117:265–265. ACADEMIC PRESS INC ELSEVIER SCIENCE, 2016.Link to Item
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Mori, Mari, Zoheb Kazi, Xiaolin Zhu, Katie Barrier, Stephanie Austin, Elizabeth Cirulli, and Priya Kishnani. “IDENTIFICATION OF MODIFIER GENES OF POMPE DISEASE PHENOTYPE BY VARIANT ANALYSIS OF WHOLE EXOME SEQUENCING DATA.” In Molecular Genetics and Metabolism, 117:272–73. ACADEMIC PRESS INC ELSEVIER SCIENCE, 2016.Link to Item
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Pendyal, Surekha, Jonathan Wons, Stephanie Austin, and Priya Kishnani. “DIABETES MELLITUS AND GLYCOGEN STORAGE DISEASE TYPE 1A IN AN ADULT FEMALE: A CASE STUDY.” In Molecular Genetics and Metabolism, 117:277–277. ACADEMIC PRESS INC ELSEVIER SCIENCE, 2016.Link to Item
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Austin, Stephanie L., Lisa Hobson-Webb, Sean N. Prater, Suhrad G. Banugaria, Raymond Wang, David S. Enterline, Donald P. Frush, and Priya S. Kishnani. “Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy.” In Molecular Genetics and Metabolism, 117:S23–S23. Elsevier BV, 2016. https://doi.org/10.1016/j.ymgme.2015.12.185.Full Text
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Austin, Stephanie, Lauren Bailey, Jennifer Sullivan, Carrie Bailey, David Viskochill, and Priya Kishnani. “Three cases of familial pseudodominance in Pompe disease: Are current practices missing diagnostic and treatment opportunities?” In Molecular Genetics and Metabolism, 117:S22–23. Elsevier BV, 2016. https://doi.org/10.1016/j.ymgme.2015.12.184.Full Text
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Bailey, Lauren A., Mari Mori, Deeksha Bali, Anne F. Buckley, and Priya S. Kishnani. “Late onset Pompe disease case review: Severe isolated hypertrophic cardiomyopathy.” In Molecular Genetics and Metabolism, 117:S24–S24. Elsevier BV, 2016. https://doi.org/10.1016/j.ymgme.2015.12.189.Full Text
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Berrier, Kathryn L., Zoheb B. Kazi, Sean N. Prater, and Priya S. Kishnani. “Long-term immune tolerance of infantile Pompe disease with entrenched immune responses to ERT using a bortezomib-based regimen.” In Molecular Genetics and Metabolism, 117:S27–28. Elsevier BV, 2016. https://doi.org/10.1016/j.ymgme.2015.12.199.Full Text
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DeArmey, Stephanie, William Charles, and Priya S. Kishnani. “Platelet response to enzyme replacement therapy and oral substrate reduction therapy in an adult with Gaucher disease.” In Molecular Genetics and Metabolism, 117:S39–40. Elsevier BV, 2016. https://doi.org/10.1016/j.ymgme.2015.12.236.Full Text
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DeArmey, Stephanie, and Priya S. Kishnani. “Electrocardiograph findings when screening for initiation of oral substrate reduction therapy with eliglustat for treatment of Gaucher disease.” In Molecular Genetics and Metabolism, 117:S39–S39. Elsevier BV, 2016. https://doi.org/10.1016/j.ymgme.2015.12.235.Full Text
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Desai, Ankit K., Zoheb B. Kazi, and Priya S. Kishnani. “Cross-reactive immunologic material positive infantile Ρompe disease: Characterization of immune responses in patient treated with enzyme replacement therapy.” In Molecular Genetics and Metabolism, 117:S41–S41. Elsevier BV, 2016. https://doi.org/10.1016/j.ymgme.2015.12.240.Full Text
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Hahn, Sihoun, Loren Pena, John W. Day, Michael Gambello, James B. Gibson, Richard Hillman, David Kronn, et al. “52-week efficacy and safety profile of alglucosidase alfa produced at 4000 liter scale in US patients with Pompe disease: ADVANCE, a phase 4 open-label prospective study.” In Molecular Genetics and Metabolism, 117:S54–S54. Elsevier BV, 2016. https://doi.org/10.1016/j.ymgme.2015.12.281.Full Text
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Kazi, Zoheb B., Ankit K. Desai, Angelika Erwin, Chris Makris, Bradley Troxler, David Kronn, Seymour Packman, et al. “Prophylactic immune modulation in infantile Ρompe disease using low-dose methotrexate induction: A safe, inexpensive, widely accessible, and efficacious strategy.” In Molecular Genetics and Metabolism, 117:S65–66. Elsevier BV, 2016. https://doi.org/10.1016/j.ymgme.2015.12.315.Full Text
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Kazi, Zoheb B., Ankit K. Desai, Mari Mori, Karanjeet Dua, J Will Thompson, Joseph Lucas, Arthur Moseley, and Priya S. Kishnani. “Differentially expressed proteins in infantile Pompe disease: prediction of patients likely to mount an immune response to enzyme replacement therapy.” In Molecular Genetics and Metabolism, 117:S66–S66. Elsevier BV, 2016. https://doi.org/10.1016/j.ymgme.2015.12.316.Full Text
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Kishnani, Priya S., John W. Day, Michael Gambello, James B. Gibson, Richard Hillman, David Kronn, Nancy Leslie, et al. “Clinical characteristics and genotypes in the ADVANCE baseline dataset, a comprehensive cohort of us children and youth with Pompe disease.” In Molecular Genetics and Metabolism, 117:S68–S68. Elsevier BV, 2016. https://doi.org/10.1016/j.ymgme.2015.12.323.Full Text
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Mori, Mari, Zoheb B. Kazi, Xiaolin Zhu, Katie Barrier, Stephanie Austin, Elizabeth T. Cirulli, and Priya S. Kishnani. “Identification of modifier genes of Pompe disease phenotype by variant analysis of whole exome sequencing data.” In Molecular Genetics and Metabolism, 117:S83–S83. Elsevier BV, 2016. https://doi.org/10.1016/j.ymgme.2015.12.368.Full Text
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Sun, Baodong, Tao Sun, Dustin Armstrong, Haiqing Yi, Chunyu Yang, Stephanie Austin, and Priya S. Kishnani. “New perspectives for ERT in Pompe disease: Extending the action of the enzyme to cytosolic targets.” In Molecular Genetics and Metabolism, 117:S110–11. Elsevier BV, 2016. https://doi.org/10.1016/j.ymgme.2015.12.453.Full Text
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Walters, Crista K., and Priya S. Kishnani. “Enzyme replacement therapy rate escalation in infantile onset Pompe disease.” In Molecular Genetics and Metabolism, 117:S119–S119. Elsevier BV, 2016. https://doi.org/10.1016/j.ymgme.2015.12.482.Full Text
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Mori, Mari, and Priya S. Kishnani. “A hypophosphatasia case series: Odontohypophosphatasia or childhood/adult form?” In Molecular Genetics and Metabolism, 114:344–344. ACADEMIC PRESS INC ELSEVIER SCIENCE, 2015.Link to Item
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Young, Sarah P., Jennifer L. Goldstein, Kathryn Berrier Sheets, Katherine M. Chistensen, David Kronn, Marwan Shinawi, Andrea M. Atherton, et al. “Urinary glucose tetrasaccharide concentrations in patients with infantile and late-onset Pompe disease identified by newborn screening.” In Molecular Genetics and Metabolism, 114:321–22. ACADEMIC PRESS INC ELSEVIER SCIENCE, 2015.Link to Item
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Austin, Stephanie, Divya Ajay, John Wiener, Raymond Wang, Eleanor Botha, Sujay Kansagra, Richard Kravitz, et al. “Further expanding the phenotype of treated infantile onset Pompe disease.” In Molecular Genetics and Metabolism, 114:S16–S16. Elsevier BV, 2015. https://doi.org/10.1016/j.ymgme.2014.12.018.Full Text
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Bailey, Lauren A., Jennifer Sullivan, and Priya S. Kishnani. “Avascular necrosis in neuronopathic Gaucher despite high-dose enzyme replacement therapy.” In Molecular Genetics and Metabolism, 114:S17–S17. Elsevier BV, 2015. https://doi.org/10.1016/j.ymgme.2014.12.019.Full Text
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Kazi, Zoheb, Katie Berrier, Cheng Lu, Deeksha Bali, J. Will Thompson, M. Arthur Moseley, and Priya Kishnani. “Proteomics to identify signature proteins in patients likely to mount an immune response to enzyme replacement therapy in infantile Pompe disease.” In Molecular Genetics and Metabolism, 114:S61–S61. Elsevier BV, 2015. https://doi.org/10.1016/j.ymgme.2014.12.128.Full Text
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Kishnani, Priya S., Kathryn Berrier Sheets, Zoheb Kazi, Stephanie DeArmey, Deeksha Bali, and Amy Rosenberg. “Prophylactic immume modulation in infantile Pompe disease: Collective experience treating CRIM-positive and negative patients in the naive setting.” In Molecular Genetics and Metabolism, 114:S64–S64. Elsevier BV, 2015. https://doi.org/10.1016/j.ymgme.2014.12.136.Full Text
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Kishnani, Priya, Yin-Hsiu Chien, Juan Llerena, Judy Kempf, Zsuzsanna Devecseri, and Ans van der Ploeg. “The Pompe Registry: 10years of data.” In Molecular Genetics and Metabolism, 114:S65–S65. Elsevier BV, 2015. https://doi.org/10.1016/j.ymgme.2014.12.137.Full Text
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McIntosh, Paul, Laura Case, Stephanie Austin, and Priya Kishnani. “Characterization of gait in late onset Pompe disease.” In Molecular Genetics and Metabolism, 114:S78–S78. Elsevier BV, 2015. https://doi.org/10.1016/j.ymgme.2014.12.171.Full Text
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Prater, Sean N., Kathryn Berrier Sheets, Sarah Young, Katherine Kim, Barbara Burton, and Priya S. Kishnani. “Consideration of increased dosing of alglucosidase alfa to achieve improved clinical outcomes in infantile Pompe disease.” In Molecular Genetics and Metabolism, 114:S96–S96. Elsevier BV, 2015. https://doi.org/10.1016/j.ymgme.2014.12.214.Full Text
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Sheets, Kathryn Berrier, Zoheb Kazi, Stephanie DeArmey, Emily Lisi, Elizabeth Stenger, and Priya S. Kishnani. “Discordant clinical responses in CRIM-positive IPD siblings demonstrate need for prophylactic ITI in the naive setting.” In Molecular Genetics and Metabolism, 114:S22–S22. Elsevier BV, 2015. https://doi.org/10.1016/j.ymgme.2014.12.030.Full Text
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Taylor, Brittany, Stephanie Austin, and Priya Kishnani. “Dietary intake of individuals with late onset Pompe disease: A review and comparison to current diet recommendations.” In Molecular Genetics and Metabolism, 114:S112–13. Elsevier BV, 2015. https://doi.org/10.1016/j.ymgme.2014.12.256.Full Text
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Li, Ling-Hui, Li-Ya Chiu, Priya S. Kishnani, Tzu-Po Chuang, Cheng-Yang Tang, Cheng-Yuan Liu, Deeksha Bali, et al. “Abstract 518: Identification of differentially expressed microRNAs in human hepatocellular adenoma associated with type I glycogen storage disease: a potential utility as biomarkers.” In Cancer Research, 74:518–518. American Association for Cancer Research (AACR), 2014. https://doi.org/10.1158/1538-7445.am2014-518.Full Text
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El-Gharbawy, Areeg H., Georgianne L. Arnold, Nancy Perrott-Taylor, Tiffany Hughley, Katie Long, Jerry Vockley, and Priya S. Kishnani. “OPTIMIZING METABOLIC CONTROL OF GLYCOGEN STORAGE DISEASE TYPE 3 (GSD3): POTENTIAL ROLE FOR MEDIUM CHAIN TRIGLYCERIDES (MCT).” In Molecular Genetics and Metabolism, 111:284–85. ACADEMIC PRESS INC ELSEVIER SCIENCE, 2014.Link to Item
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Austin, Stephanie, Erin McNamara, John S. Wiener, Andrew C. Peterson, and Priya S. Kishnani. “Expanding our understanding of incontinence and lower urinary tract symptoms in adults with Pompe disease.” In Molecular Genetics and Metabolism, 111:S21–S21. Elsevier BV, 2014. https://doi.org/10.1016/j.ymgme.2013.12.029.Full Text
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Austin, Stephanie, Jeffrey Horvath, Ramin Javin, Laura Case, Karla Greene, Brian J. Soher, Priya Kishnani, and Mustafa Bashir. “Quantitative whole-body muscle MRI, clinical muscle group weakness, and muscle-map correlation in adult patients with Pompe disease.” In Molecular Genetics and Metabolism, 111:S21–22. ACADEMIC PRESS INC ELSEVIER SCIENCE, 2014. https://doi.org/10.1016/j.ymgme.201312.030.Full Text Link to Item
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Austin, Stephanie, Lisa D. Hobson-Webb, Sneha Jain, Laura Case, Karla Greene, and Priya S. Kishnani. “Small fiber neuropathy in late-onset Pompe disease: a case report and prospective screening.” In Molecular Genetics and Metabolism, 111:S22–S22. Elsevier BV, 2014. https://doi.org/10.1016/j.ymgme.2013.12.031.Full Text
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Chien, Yin-Hsiu, Ans van der Ploeg, Simon A. Jones, Barry Byrne, Ashok Vellodi, Nancy Leslie, Eugen Mengel, et al. “Survival and developmental milestones among Pompe registry patients with classic infantile-onset Pompe disease with different timing of initiation of treatment with enzyme replacement therapy (ERT).” In Molecular Genetics and Metabolism, 111:S31–32. Elsevier BV, 2014. https://doi.org/10.1016/j.ymgme.2013.12.057.Full Text
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Kasturi, Vellore G., Pamela C. Hider, Stephanie L. Austin, A. Herbert, Priya S. Kishnani, and Ozlem Goker-Alpan. “Outcome of pregnancy in Pompe disease with and without enzyme replacement therapy.” In Molecular Genetics and Metabolism, 111:S60–S60. Elsevier BV, 2014. https://doi.org/10.1016/j.ymgme.2013.12.131.Full Text
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Koeberl, Dwight, Stephanie Austin, Laura Case, Edward C. Smith, Anne Buckley, Sarah P. Young, Deeksha Bali, and Priya S. Kishnani. “Pilot study of adjunctive albuterol in late-onset Pompe disease reveals safety and efficacy from upregulated Mannose-6-phosphate receptor expression.” In Molecular Genetics and Metabolism, 111:S62–S62. Elsevier BV, 2014. https://doi.org/10.1016/j.ymgme.2013.12.137.Full Text
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Sheets, Kathryn B., Priya S. Kishnani, Zoheb Kazi, Stephanie M. DeArmey, Deeksha S. Bali, Jian Dai, and Catherine W. Rehder. “The emerging natural history of cross-reactive immunologic material (CRIM)-negative infantile Pompe disease patients treated with recombinant human GAA.” In Molecular Genetics and Metabolism, 111:S97–S97. Elsevier BV, 2014. https://doi.org/10.1016/j.ymgme.2013.12.237.Full Text
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Dale, David C., Audrey Anna Bolyard, Tracy M. Marrero, Merideth L. Kelley, Lan Phan, Laurence A. Boxer, Priya S. Kishnani, Joanne Kurtzberg, and David A. Weinstein. “Neutropenia In Glycogen Storage Disease 1b (GSD1b).” In Blood, 122:2265–2265. American Society of Hematology, 2013. https://doi.org/10.1182/blood.v122.21.2265.2265.Full Text
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Brooks, Elizabeth J., Dianne Little, Ramamani Arumugam, Baodong Sun, Sarah Curtis, Amanda DeMaster, Michael Maranzano, et al. “Pathogenesis of Growth Failure in Murine and Canine Glycogen Storage Disease-Ia and Partial Reversal of Growth Failure Using Adeno-Associated Viral Vector Therapy.” In Molecular Therapy, 21:S105–6. NATURE PUBLISHING GROUP, 2013.Link to Item
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Swoboda, Kathryn, Kristin Krosschell, Thomas Crawford, John Kissel, Charles Scott, Mary Schroth, Gyula Acsadi, et al. “A Multicenter Phase II Open-Label Trial of L-Carnitine and Valproic Acid in Infants with Spinal Muscular Atrophy Type I.” In Neurology, Vol. 80. LIPPINCOTT WILLIAMS & WILKINS, 2013.Link to Item
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Kishnani, Priya, Mark Tarnopolsky, Kumarswamy Sivakumar, Mark Roberts, Barry Byrne, Ozlem Goker-Alpan, Karl Guter, et al. “A phase 2a study to investigate drug–drug interactions between escalating doses of AT2220 (duvoglustat hydrochloride) and acid alfa-glucosidase in subjects with Pompe disease.” In Molecular Genetics and Metabolism, 108:S54–S54. Elsevier BV, 2013. https://doi.org/10.1016/j.ymgme.2012.11.131.Full Text
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Prater, Sean, Suhrad Banugaria, Jian Dai, Deeksha Bali, Alan Proia, and Priya Kishnani. “Characterization of differential tissue GAA content and CI-M6PR/IGF2R expression using autopsy material obtained from 2 patients with CRIM-negative infantile Pompe disease treated with ERT.” In Molecular Genetics and Metabolism, 108:S77–78. Elsevier BV, 2013. https://doi.org/10.1016/j.ymgme.2012.11.205.Full Text
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Corneliussen, Karen E., Michele Spencer-Manzon, Alastair D. Smith, and Priya S. Kishnani. “Outcomes of isolated liver and simultaneous liver-kidney transplantation in two patients with glycogen storage disease type lb.” In Molecular Genetics and Metabolism, 105:309–10. ACADEMIC PRESS INC ELSEVIER SCIENCE, 2012.Link to Item
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Kishnani, Priya S., Cheryl Rockman-Greenberg, Michael Whyte, Thomas Weber, Azziz Mhanni, Katherine Madson, Amy Reeves, et al. “Hypophosphatasia: Enzyme replacement therapy (ENB-0040) decreases TNSALP substrate accumulation and improves functional outcome in affected adolescents and adults.” In Molecular Genetics and Metabolism, 105:328–29. ACADEMIC PRESS INC ELSEVIER SCIENCE, 2012.Link to Item
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Phornphutkul, Chanika, Natalie Beck, Kathleen Rotondo, Beverly Hay, Darshak Sanghavi, Leah Williams, Deeksha Bali, and Priya Kishnani. “Clinical challenges diagnosing an infant with hypertrophic cardiomyopathy.” In Molecular Genetics and Metabolism, 105:348–49. ACADEMIC PRESS INC ELSEVIER SCIENCE, 2012.Link to Item
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Sun, Baodong, Haiqing Yi, Beth Thurberg, Sarah Curtis, Stephanie Austin, John Fyfe, Dwight Koeberl, and Priya Kishnani. “A canine model of glycogen storage disease type III.” In Molecular Genetics and Metabolism, 105:355–56. ACADEMIC PRESS INC ELSEVIER SCIENCE, 2012.Link to Item
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Yi, Haiqing, Baodong Sun, Keri Fredrickson, Elizabeth Drake, Beth Thurberg, John Fyfe, Karen Corneliussen, Deeksha Bali, and Priya Kishnani. “Rapamycin is a potential therapy for glycogen storage disease type III.” In Molecular Genetics and Metabolism, 105:364–364. ACADEMIC PRESS INC ELSEVIER SCIENCE, 2012.Link to Item
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Bali, Deeksha, Jennifer Goldstein, Suhrad Banugaria, Jian Dai, Joanne Mackey, Catherine Rehder, and Priya Kishnani. “Predicting Cross Reactive Immunological Material (CRIM) Status in Pompe Disease Using GAA Mutations: Lessons Learned from 10 Years of Clinical Laboratory Testing Experience.” In Molecular Genetics and Metabolism, 105:S20–S20. Elsevier BV, 2012. https://doi.org/10.1016/j.ymgme.2011.11.025.Full Text
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Banugaria, Suhrad, Sean Prater, Deeksha Bali, Catherine Rehder, Amy Rosenberg, and Priya Kishnani. “Long Term Outcome and Clinical Experience on Immune Tolerance Induction Therapies in Infantile Pompe Disease.” In Molecular Genetics and Metabolism, 105:S20–S20. Elsevier BV, 2012. https://doi.org/10.1016/j.ymgme.2011.11.026.Full Text
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Crombez, Eric, Priya Kishnani, Hadhami Ben Turkia, Derlis Gonzalez, Ari Zimran, Madhulika Kabra, Elena Lukina, et al. “Two-Year Efficacy And Safety Of Velaglucerase Alfa In Patients With Type 1 Gaucher Disease Switching From Imiglucerase: Phase III Trial HGT-GCB-039 And Extension.” In Molecular Genetics and Metabolism, 105:S25–26. Elsevier BV, 2012. https://doi.org/10.1016/j.ymgme.2011.11.044.Full Text
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Kishnani, Priya, Hernán Amartino, Christopher Lindberg, Amanda Wilson, Joan Keutzer, and Timothy Miller. “Presenting Signs and Symptoms Among Patients with Pompe Disease Enrolled in the Pompe Registry.” In Molecular Genetics and Metabolism, 105:S41–42. Elsevier BV, 2012. https://doi.org/10.1016/j.ymgme.2011.11.097.Full Text
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Kishnani, Priya, Hernán Amartino, Christopher Lindberg, Timothy Miller, Joan Keutzer, and Amanda Wilson. “Characteristics Associated with Delays in Diagnosis of Pompe Disease Among Patients Enrolled in the Pompe Registry.” In Molecular Genetics and Metabolism, 105:S41–S41. Elsevier BV, 2012. https://doi.org/10.1016/j.ymgme.2011.11.096.Full Text
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Koeberl, Dwight, Songtao Li, Jian Dai, Beth Thurberg, Deeksha Bali, and Priya Kishnani. “Beta2 Agonists Enhance Efficacy of Enzyme Replacement Therapy in Murine Pompe Disease.” In Molecular Genetics and Metabolism, 105:S42–S42. Elsevier BV, 2012. https://doi.org/10.1016/j.ymgme.2011.11.098.Full Text
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Patel, Trusha, Suhrad Banugaria, Stephanie DeArmey, Joanne Mackey, and Priya Kishnani. “Immunological Challenges in Late-Onset Pompe Disease Treated with Enzyme Replacement Therapy.” In Molecular Genetics and Metabolism, 105:S50–S50. Elsevier BV, 2012. https://doi.org/10.1016/j.ymgme.2011.11.127.Full Text
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Swoboda, Kathryn J., Kristin Krosschell, Thomas Crawford, Charles Scott, John Kissel, Mary K. Schroth, Gyula Acsadi, et al. “A Multicenter Phase II Open-Label Trial of Valproic Acid and L-Carnitine in Infants with SMA Type I.” In Annals of Neurology, 72:S78–79. WILEY-BLACKWELL, 2012.Link to Item
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Kishnani, P., B. Byrne, L. Case, E. Cupler, A. Genge, A. van der Ploeg, and S. Prasad. “The Heterogeneity of Pompe Disease: Early Data on Genotype From the Pompe Registry.” In Clinical Therapeutics, 33:S27–28, 2011. https://doi.org/10.1016/j.clinthera.2011.05.068.Full Text
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Kishnani, P., B. Byrne, L. Case, L. Merlini, W. Müller-Felber, S. Prasad, and A. van der Ploeg. “The Pompe Registry: Baseline Data From the First Five Years.” In Clinical Therapeutics, 33:S29, 2011. https://doi.org/10.1016/j.clinthera.2011.05.069.Full Text
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Mandel, H., D. Bali, P. S. Kishnani, G. Bar-Joseph, A. Lorber, A. Khoury, D. Natan, et al. “Treatment Outcome of Pompe Disease Infants with Negative Cross-Reactive Immunologic Material From Israel and Gaza.” In Clinical Therapeutics, 33:S17, 2011. https://doi.org/10.1016/j.clinthera.2011.05.058.Full Text
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El-Gharbawy, Areeg H., Courtney D. Thornburg, Stephanie Austin, and Priya S. Kishnani. “Metabolic predictors of coagulation abnormalities in glycogen storage disease type 1.” In Molecular Genetics and Metabolism, 102:277–78. ACADEMIC PRESS INC ELSEVIER SCIENCE, 2011.Link to Item
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Tolun, Adviye Ayper, Paul Wuh-Liang Hwu, Yin-Hsiu Chien, Amie Vaisnins-Carroll, Deeksha Bali, David Millington, Priya S. Kishnani, and Sarah P. Young. “Monitoring urinary glucose tetrasaccharide biomarker in patients with infantile and late-onset Pompe disease identified through newborn screening.” In Molecular Genetics and Metabolism, 102:316–17. ACADEMIC PRESS INC ELSEVIER SCIENCE, 2011.Link to Item
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Banugaria, Suhrad, Prater Sean, Sheela Nampoothiri, Jonathan Feldman, Joyce Kobori, Judeth McGann, Dwight Koeberl, and Priya Kishnani. “Bortezomib: A solution to the challenge of antibodies in diseases treated with therapeutic proteins?” In Molecular Genetics and Metabolism, 102:S6–7. Elsevier BV, 2011. https://doi.org/10.1016/j.ymgme.2010.11.020.Full Text
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Case, Laura, Sean Prater, Ramona Rodriguiz, Amy Pastva, Andrea Taylor, Priya Kishnani, and Dwight Koeberl. “The effect of exercise on improving strength and function in a Pompe mouse model treated with AAV vector mediated gene therapy.” In Molecular Genetics and Metabolism, 102:S10–S10. Elsevier BV, 2011. https://doi.org/10.1016/j.ymgme.2010.11.033.Full Text
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Kishnani, Priya, Barry Byrne, Laura Case, Edward Cupler, Angela Genge, and Suyash Prasad. “The heterogeneity of pompe disease: Early data on genotype from the Pompe registry.” In Molecular Genetics and Metabolism, 102:S24–25. Elsevier BV, 2011. https://doi.org/10.1016/j.ymgme.2010.11.084.Full Text
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Kishnani, Priya, Barry Byrne, Laura Case, Luciano Merlini, Wolfgang Mueller-Felber, and Suyash Prasad. “The pompe registry: Baseline data from the first five years.” In Molecular Genetics and Metabolism, 102:S24–S24. Elsevier BV, 2011. https://doi.org/10.1016/j.ymgme.2010.11.083.Full Text
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Prater, Sean, Suhrad Banugaria, Joanne Mackey, Michelle Canfield, Laura Case, Stephanie DeArmey, and Priya Kishnani. “The clinical phenotype of Long-term infantile Pompe disease survivors.” In Molecular Genetics and Metabolism, 102:S36–37. Elsevier BV, 2011. https://doi.org/10.1016/j.ymgme.2010.11.123.Full Text
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Cupler, Edward J., Barry J. Byrne, Laura E. Case, Angela L. Genge, Priya S. Kishnani, Ying Zhang, and Suyash Prasad. “Analysis of Cardiac Involvement in Children and Adults with Pompe Disease from the Pompe Registry.” In Neurology, 74:A518–19. LIPPINCOTT WILLIAMS & WILKINS, 2010.Link to Item
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Banugaria, Suhrad G., Sean N. Prater, Yiu-Ki Ng, Joyce A. Kobori, Richard S. Finkel, Roger L. Ladda, and Priya S. Kishnani. “THE ROLE OF ANTI-rhGAA ANTIBODY TITERS AND CLINICAL OUTCOMES IN INFANTILE POMPE DISEASE PATIENTS.” In Molecular Genetics and Metabolism, 99:199–199. ACADEMIC PRESS INC ELSEVIER SCIENCE, 2010.Link to Item
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El-Gharbawy, Areeg H., Anne Boney, and Priya S. Kishnani. “SEVERE NEONATAL LACTIC ACIDOSIS IN A MALE INFANT WITH A PDH E1 ALPHA FRAME SHIFT MUTATION IN THE C-TERMINAL REGION: COULD WE PREDICT THE OUTCOME?” In Molecular Genetics and Metabolism, 99:213–213. ACADEMIC PRESS INC ELSEVIER SCIENCE, 2010.Link to Item
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Kishnani, Priya, Suhrad Banugaria, Stephanie DeArmey, Joanne Mackey, Sarah Young, Deeksha Bali, Dwight Koeberl, et al. “74. Immunological aspects of treatment of Pompe disease.” In Molecular Genetics and Metabolism, 99:S23–S23. Elsevier BV, 2010. https://doi.org/10.1016/j.ymgme.2009.10.091.Full Text
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Kishnani, Priya S. “Immunological aspects of treatment of Pompe disease.” In Clinical Therapeutics, 32:S49–50. Elsevier BV, 2010. https://doi.org/10.1016/s0149-2918(10)80001-3.Full Text
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Sun, Baodong, Michael Kulis, Songtao Li, Yifan Li, Wesley Burks, Priya S. Kishnani, and Dwight D. Koeberl. “Desensitization through Immunomodulatory Gene Therapy Suppresses the Antibody Response to Enzyme Replacement Therapy in Murine Pompe Disease.” In Molecular Therapy, 17:S344–S344. NATURE PUBLISHING GROUP, 2009.Link to Item
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Kishnani, Priya, Barry Byrne, Laura Case, and Timothy Miller. “75. Clinical signs and symptoms of Pompe disease in 120 infantile-onset and 373 late-onset patients: A report from the Pompe Registry.” In Molecular Genetics and Metabolism, 96:S28–S28. Elsevier BV, 2009. https://doi.org/10.1016/j.ymgme.2008.11.076.Full Text
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Kishnani, Priya, and Dwight Koeberl. “76. CRIM responses in Pompe disease.” In Molecular Genetics and Metabolism, 96:S28–S28. Elsevier BV, 2009. https://doi.org/10.1016/j.ymgme.2008.11.077.Full Text
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Kishnani, Priya, Barry Byrne, Laura Case, Luciano Merlini, Wolfgang Mueller-Felber, Kathleen Melia, Christopher Dandrea, and Ans van der Ploeg. “53. The Pompe Registry: Centralized data collection to track the natural course of Pompe disease.” In Molecular Genetics and Metabolism, 93:27–27. Elsevier BV, 2008. https://doi.org/10.1016/j.ymgme.2007.10.065.Full Text
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Kishnani, Priya, Blythe Crissman, and Joanne Mackey. “52. Effect of dose of enzyme replacement therapy with imiglucerase on bone crises in adolescents with Gaucher disease.” In Molecular Genetics and Metabolism, 93:27–27. Elsevier BV, 2008. https://doi.org/10.1016/j.ymgme.2007.10.064.Full Text
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Marsden, Deborah, Kenneth Berger, Ans van der Ploeg, Laura Case, Christopher Dandrea, Priya Kishnani, and Edward Giannini. “66. Development of a disease severity scoring system for patients with Pompe disease.” In Molecular Genetics and Metabolism, 93:30–31. Elsevier BV, 2008. https://doi.org/10.1016/j.ymgme.2007.10.078.Full Text
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Corzo, Deyanira, Barry Byrne, Wuh-Liang Hwu, Nancy Leslie, Hanna Mandel, and Marc Nicolino. “Alglucosidase Alfa (Myozyme®) in Infants and Children with Rapidly Progressive Pompe Disease.” In Clinical Therapeutics, 30:S9–10. Elsevier BV, 2008. https://doi.org/10.1016/s0149-2918(08)80023-9.Full Text
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Merilini, L., P. Kishani, Barry Byrne, W. Müller- Felber, Laura Case, and A. van der Ploeg. “The Pompe Registry: Centralized Data Collection to Track the Natural Course of Pompe Disease.” In Clinical Therapeutics, Vol. 30. Elsevier, 2008.
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Kishnani, Priya S. “68 Diagnosing and treating Pompe disease, long term outcome and risk factors.” In Molecular Genetics and Metabolism, 92:26–26. Elsevier BV, 2007. https://doi.org/10.1016/j.ymgme.2007.08.073.Full Text
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Koeberl, Dwight D., Baodong Sun, Andrew Bird, Sarah P. Young, Y. -. T. Chen, and Priya S. Kishnani. “70 Enhanced response to enzyme replacement therapy in Pompe disease following the induction of immune tolerance.” In Molecular Genetics and Metabolism, 92:27–27. Elsevier BV, 2007. https://doi.org/10.1016/j.ymgme.2007.08.075.Full Text
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