Scholars@Duke
Priya Sunil Kishnani

Priya Sunil Kishnani

Chen Family Distinguished Professor of Pediatrics
Pediatrics, Medical Genetics
priya.kishnani@duke.edu
Box 103856, DUMC, Durham, NC 27710
905 LaSalle Street, GSRB1, 4th Floor, Room 4010, Durham, NC 27710

Selected Publications

Liver-directed AAV gene therapy in mice corrects glycogen storage disease type IX γ2.

Journal Article Sci Adv · November 14, 2025 Glycogen storage disease (GSD) type IX γ2 is a rare inborn error of metabolism where a defect in glycogenolysis leads to the inability to break down glycogen in the liver. Patients with GSD IX γ2 develop hypoglycemia and advanced liver disease, placing the ... Full text Link to item Cite

The Detection of Down Syndrome Arthritis in Clinical Practice: A Multicenter, International Pilot and Feasibility Study of a Down Syndrome-Specific Musculoskeletal Screening Tool.

Journal Article Am J Med Genet A · November 6, 2025 Down syndrome (DS) is associated with an increased risk for an inflammatory arthritis termed Down syndrome-associated arthritis (DA). Clinical awareness of DA may prevent morbidity, but there is currently no consensus approach to screen for DA. A DS muscul ... Full text Link to item Cite

Navigating the Emotional and Practical Challenges of Newborn Screening for Late-Onset Pompe Disease: Insights From Parental Perspectives.

Journal Article Pediatr Neurol · November 2025 Pompe disease (PD), an autosomal recessive lysosomal disorder, results in glycogen accumulation in muscle cells, leading to progressive muscle weakness and respiratory insufficiency. Newborn screening (NBS) has improved outcomes for infantile-onset PD by e ... Full text Link to item Cite

Quantitative muscle ultrasound as a window into disease progression in infantile-onset Pompe disease.

Journal Article Mol Genet Metab · November 2025 BACKGROUND: Infantile-onset Pompe disease (IOPD) is caused by a deficiency of the enzyme acid alfa glucosidase, resulting in glycogen accumulation in muscles and other tissues. Without treatment, affected infants typically die within two years. Enzyme repl ... Full text Link to item Cite

Revisiting the Genetics of Hypophosphatasia.

Journal Article J Inherit Metab Dis · November 2025 Hypophosphatasia (HPP) is a rare, inherited monogenic disorder that is typically caused by variants in the tissue-nonspecific alkaline phosphatase (ALPL) gene. Genetic testing for ALPL variant(s) to confirm the diagnosis in patients with suspected HPP is a ... Full text Link to item Cite

The Mini-COMET Clinical Trial: Safety and Efficacy of Avalglucosidase Alfa after 97 Weeks of Treatment in Children with Infantile-Onset Pompe Disease Previously Treated with Alglucosidase Alfa.

Journal Article J Pediatr · October 2025 OBJECTIVE: To evaluate the long-term safety and efficacy of avalglucosidase alfa in children with infantile-onset Pompe disease experiencing clinical decline (cohorts 1 and 2) or suboptimal response (cohort 3) to prestudy alglucosidase alfa. STUDY DESIGN: ... Full text Link to item Cite

Infantile-onset Pompe disease entering adulthood: insights from two decades of enzyme replacement therapy experience.

Journal Article Genet Med · September 23, 2025 PURPOSE: This study details the long-term clinical outcomes in adult participants with CRIM-positive infantile-onset Pompe disease (IOPD) treated with enzyme replacement therapy (ERT), initially reported in 2012 (n=11). METHODS: Medical records were review ... Full text Link to item Cite

Efficacy and safety of avalglucosidase alfa in patients with late-onset Pompe disease after 145 weeks of treatment during the COMET trial.

Journal Article J Neurol · August 16, 2025 BACKGROUND AND OBJECTIVES: In the COMET trial, avalglucosidase alfa treatment for late-onset Pompe disease was safe, tolerable and associated with stabilization or improvement in disease parameters through 97 weeks. We report outcomes in the trial extensio ... Full text Link to item Cite

Switching Enzyme Replacement Therapy for Late-Onset Pompe Disease From Alglucosidase Alfa to Cipaglucosidase Alfa Plus Miglustat: Post Hoc Effect Size Analysis of PROPEL.

Journal Article Muscle Nerve · August 2025 INTRODUCTION/AIMS: The randomized, double-blind PROPEL study (NCT03729362) suggested benefits for cipaglucosidase alfa plus miglustat (cipa+mig) versus alglucosidase alfa plus placebo (alg+pbo) in enzyme replacement therapy (ERT)-experienced adults with la ... Full text Link to item Cite

The ALPL gene variant project: results of the first 100 reclassified variants.

Journal Article JBMR plus · June 2025 Hypophosphatasia (HPP) is an inherited disorder that affects bone and tooth mineralization, among other body systems. HPP is caused by pathogenic variants in the alkaline phosphatase-liver (ALPL) gene, which encodes tissue nonspecific alkaline phosp ... Full text Cite

An Assessment of Dietary Intake, Feeding Practices, Growth, and Swallowing Function in Young Children with Late-Onset Pompe Disease: A Framework for Developing Nutrition Guidelines.

Journal Article Nutrients · June 1, 2025 Newborn screening (NBS) is leading to the diagnosis of a large number of children with late-onset Pompe disease (LOPD), yet many remain asymptomatic until later years. A high-protein, low-carbohydrate diet is recommended for adults with LOPD. Nutrition gui ... Full text Link to item Cite

Challenges in Gaucher disease: Perspectives from an expert panel.

Journal Article Molecular genetics and metabolism · May 2025 This focused review concentrates on eight topics of high importance for Gaucher disease (GD) clinicians and researchers: 1) The consideration of GD as distinct types rather than a spectrum. A review of the literature clearly supports the view that there ar ... Full text Cite

Long-Term Correction of Murine Glycogen Storage Disease Type III by AAV-Mediated Gene Therapy Using an Immunotolerizing Dual Promoter to Express Bacterial Pullulanase.

Conference Adv Cell Gene Ther · April 17, 2025 BACKGROUND: We recently reported an innovative gene therapy approach for GSD III using a recombinant adeno-associated virus serotype 9 vector (AAV9-Dual-Pull) expressing a bacterial debranching enzyme (pullulanase) driven by a tandem dual promoter that con ... Full text Link to item Cite

Exploring the use of the National Institutes of Health Toolbox Cognition Battery with children and adolescents with Pompe disease: Preliminary findings.

Journal Article Mol Genet Metab · March 2025 BACKGROUND: Although Pompe disease (PD) was originally characterized as a metabolic myopathy, there is now emerging evidence of neurological involvement in children and adolescents with infantile-onset Pompe disease (IOPD). Therefore, assessing cognition a ... Full text Link to item Cite

Disease burden by <i>ALPL</i> variant number in patients with non-life-threatening hypophosphatasia in the Global HPP Registry.

Journal Article Journal of medical genetics · March 2025 BackgroundHypophosphatasia (HPP) is a rare metabolic disease caused by autosomal dominant or recessive inheritance of ALPL variants resulting in low alkaline phosphatase activity. The objective of this analysis was to compare HPP disease bu ... Full text Cite

Prenatal Delivery of Enzyme Replacement Therapy to Fetuses Affected by Early-Onset Lysosomal Storage Diseases

Journal Article American Journal of Medical Genetics Part C Seminars in Medical Genetics · January 1, 2025 The expansion of prenatal genetic screening and diagnosis warrants the evaluation of approved postnatal therapies that may be safely and feasibly translated to prenatal administration to a fetus affected by monogenic disease. For lysosomal storage diseases ... Full text Cite

Optimizing clinical outcomes: The journey of twins with CRIM-negative infantile-onset Pompe disease on high-dose enzyme replacement therapy and immunomodulation.

Journal Article Mol Genet Metab Rep · December 2024 Infantile-onset Pompe disease (IOPD) is caused by a deficiency in the enzyme acid alpha-glucosidase (GAA). It is characterized by severe and progressive hypertrophic cardiomyopathy and muscle weakness with death in the first 2 years of life if left untreat ... Full text Link to item Cite

Progressive liver disease and dysregulated glycogen metabolism in murine GSD IX γ2 models human disease.

Journal Article Mol Genet Metab · December 2024 Hepatic glycogen storage disease type IX γ2 (GSD IX γ2) is a severe, liver-specific subtype of GSD IX. While all patients with hepatic GSD IX present with similar symptoms, over 95 % of patients with GSD IX γ2 progress to liver fibrosis and cirrhosis. Desp ... Full text Link to item Cite

New insights into the landscape of ALPL gene variants in patients with hypophosphatasia from the Global HPP Registry.

Journal Article American journal of medical genetics. Part A · November 2024 Hypophosphatasia (HPP) is a rare, inherited metabolic disease characterized by low tissue-nonspecific alkaline phosphatase activity due to ALPL gene variants. We describe ALPL variants from the observational, prospective, multinational Global HPP Registry. ... Full text Cite

Switching treatment to cipaglucosidase alfa plus miglustat positively affects patient-reported outcome measures in patients with late-onset Pompe disease.

Journal Article Journal of patient-reported outcomes · November 2024 BackgroundLate-onset Pompe disease (LOPD), a rare autosomal recessive multisystemic disorder, substantially impacts patients' day-to-day activities, outcomes, and health-related quality of life (HRQoL). The PROPEL trial compared cipaglucosidase al ... Full text Cite

Whole exome sequencing reveals a dual diagnosis of BCAP31-related syndrome and glutaric aciduria III.

Journal Article Mol Genet Metab Rep · September 2024 BACKGROUND: Biochemical testing is a common first-tier approach in the setting of genetic evaluation of patients with unexplained developmental delay. However, results can be unclear, and a plan for second-tier analysis must be determined based on the pati ... Full text Link to item Cite

Clinical insight meets scientific innovation to develop a next generation ERT for Pompe disease.

Journal Article Molecular genetics and metabolism · September 2024 Years of research into the structure, processing, and function of acid alpha-glucosidase led to the development and 2006 approval of alglucosidase alfa (recombinant human acid alpha-glucosidase, Myozyme®/Lumizyme®), an enzyme replacement therapy and the fi ... Full text Cite

Gaucher disease type 3c: Expanding the clinical spectrum of an ultra-rare disease.

Journal Article JIMD Rep · September 2024 Gaucher disease (GD) type 3 is an autosomal recessive lysosomal disease caused by deficiency of β-glucocerebrosidase (GCase) and encompasses a spectrum of cardiac, neurological, and ophthalmological abnormalities. Although the clinical presentations can be ... Full text Link to item Cite

Long-term effectiveness of eliglustat treatment: A real-world analysis from the International Collaborative Gaucher Group Gaucher Registry.

Journal Article Am J Hematol · August 2024 Gaucher disease type 1 (GD1) is known for phenotypic heterogeneity and varied natural history. Registrational clinical trials enrolled narrowly defined phenotypes, but greater diversity is encountered in clinical practice. We report real-world outcomes wit ... Full text Link to item Cite

Changes in forced vital capacity over ≤ 13 years among patients with late-onset Pompe disease treated with alglucosidase alfa: new modeling of real-world data from the Pompe Registry.

Journal Article J Neurol · August 2024 BACKGROUND: Chronic respiratory insufficiency from progressive muscle weakness causes morbidity and mortality in late-onset Pompe disease (LOPD). Previous Pompe Registry (NCT00231400) analyses for ≤ 5 years' alglucosidase alfa treatment showed a single lin ... Full text Link to item Cite

A Delphi panel to build consensus on assessing disease severity and disease progression in adult patients with hypophosphatasia in the United States.

Journal Article J Endocrinol Invest · June 2024 BACKGROUND: Hypophosphatasia (HPP) is an inborn error of metabolism with a variable presentation. We conducted a modified Delphi panel to obtain expert consensus on knowledge gaps regarding disease severity and progression in adult patients with HPP. METHO ... Full text Link to item Cite

Induced pluripotent stem cell (iPSC) modeling validates reduced GBE1 enzyme activity due to a novel variant, p.Ile694Asn, found in a patient with suspected glycogen storage disease IV.

Journal Article Mol Genet Metab Rep · June 2024 BACKGROUND: Glycogen Storage disease type 4 (GSD4), a rare disease caused by glycogen branching enzyme 1 (GBE1) deficiency, affects multiple organ systems including the muscles, liver, heart, and central nervous system. Here we report a GSD4 patient, who p ... Full text Link to item Cite

Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model.

Journal Article JCI Insight · May 14, 2024 BackgroundGlycogen storage disease type IV (GSD IV) is an ultrarare autosomal recessive disorder that causes deficiency of functional glycogen branching enzyme and formation of abnormally structured glycogen termed polyglucosan. GSD IV has traditionally be ... Full text Link to item Cite

104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07).

Journal Article J Neurol · May 2024 The phase III double-blind PROPEL study compared the novel two-component therapy cipaglucosidase alfa + miglustat (cipa + mig) with alglucosidase alfa + placebo (alg + pbo) in adults with late-onset Pompe disease (LOPD). This ongoing open-label extension ( ... Full text Link to item Cite

Effect Size Analysis of Cipaglucosidase Alfa Plus Miglustat Versus Alglucosidase Alfa in ERT-experienced Adults with Late-onset Pompe Disease in PROPEL (S21.003).

Journal Article Neurology · April 9, 2024 OBJECTIVE: To analyze within-group effect sizes of cipaglucosidase alfa plus miglustat (cipa+mig) and alglucosidase alfa (alg) for efficacy, quality of life (QoL), and biomarker variables in ERT-experienced patients. BACKGROUND: The randomized, double-blin ... Full text Link to item Cite

Long-term safety and efficacy of cipaglucosidase alfa plus miglustat in individuals living with Pompe disease: an open-label phase I/II study (ATB200-02).

Journal Article J Neurol · April 2024 Cipaglucosidase alfa plus miglustat (cipa + mig) is a novel, two-component therapy for Pompe disease. We report data from the Phase I/II ATB200-02 study for up to 48 months of treatment. Four adult cohorts, including one non-ambulatory ERT-experienced (n = ... Full text Link to item Cite

Effectiveness of asfotase alfa for treatment of adults with hypophosphatasia: results from a global registry.

Journal Article Orphanet J Rare Dis · March 8, 2024 BACKGROUND: Hypophosphatasia (HPP) is a rare inherited disease caused by deficient activity of tissue-nonspecific alkaline phosphatase. Many adults with HPP have a high burden of disease, experiencing chronic pain, fatigue, limited mobility, and dental iss ... Full text Link to item Cite

Underrepresentation of Diverse Ancestries Drives Uncertainty in Genetic Variants Found in Cardiomyopathy-Associated Genes.

Journal Article JACC Adv · February 2024 BACKGROUND: Thousands of genetic variants have been identified in cardiomyopathy-associated genes. Diagnostic genetic testing is key for evaluation of individuals with suspected cardiomyopathy. While accurate variant pathogenicity assignment is important f ... Full text Link to item Cite

Severe CNS involvement in a subset of long-term treated children with infantile-onset Pompe disease.

Journal Article Mol Genet Metab · February 2024 INTRODUCTION: The standard of care for patients with infantile-onset Pompe disease (IOPD) is enzyme replacement therapy (ERT), which does not cross the blood brain barrier. While neuromuscular manifestations of IOPD are well-described, central nervous syst ... Full text Link to item Cite

Effect of avalglucosidase alfa on disease-specific and general patient-reported outcomes in treatment-naïve adults with late-onset Pompe disease compared with alglucosidase alfa: Meaningful change analyses from the Phase 3 COMET trial.

Journal Article Mol Genet Metab · February 2024 BACKGROUND: The Phase 3 COMET trial (NCT02782741) comparing avalglucosidase alfa and alglucosidase alfa included health-related quality of life (HRQoL) assessments in treatment-naïve patients with late-onset Pompe disease (LOPD). Here, we further character ... Full text Link to item Cite

Validation of the Patient-Reported Outcomes Measurement Information System (PROMIS®) physical function questionnaire in late-onset Pompe disease using PROPEL phase 3 data.

Journal Article J Patient Rep Outcomes · January 31, 2024 BACKGROUND: The construct validity and interpretation of the Patient-Reported Outcome Measurement Information System (PROMIS®) Physical Function short form 20a (PF20a) questionnaire were evaluated for patients with late-onset Pompe disease (LOPD), a rare, ... Full text Link to item Cite

Gene therapy for glycogen storage diseases.

Journal Article J Inherit Metab Dis · January 2024 Glycogen storage disorders (GSDs) are inherited disorders of metabolism resulting from the deficiency of individual enzymes involved in the synthesis, transport, and degradation of glycogen. This literature review summarizes the development of gene therapy ... Full text Link to item Cite

Clinical Profiles of Children with Hypophosphatasia prior to Treatment with Enzyme Replacement Therapy: An Observational Analysis from the Global HPP Registry.

Journal Article Horm Res Paediatr · 2024 INTRODUCTION: The objective of this study was to better understand the clinical profiles of children with hypophosphatasia (HPP) prior to treatment with enzyme replacement therapy (ERT). METHODS: Pretreatment demographics and medical histories of ERT-treat ... Full text Link to item Cite

The Global ALPL gene variant classification project: Dedicated to deciphering variants.

Journal Article Bone · January 2024 BACKGROUND: Hypophosphatasia (HPP) is an inherited multisystem disorder predominantly affecting the mineralization of bones and teeth. HPP is caused by pathogenic variants in ALPL, which encodes tissue non-specific alkaline phosphatase (TNSALP). Variants o ... Full text Link to item Cite

Real-world outcomes from a series of patients with late onset Pompe disease who switched from alglucosidase alfa to avalglucosidase alfa.

Journal Article Front Genet · 2024 Introduction: Pompe disease is an inherited, progressive neuromuscular disorder caused by deficiency of lysosomal acid α-glucosidase and accumulation of glycogen in tissues, resulting in cellular dysfunction, muscle damage, and functional disabilities. Enz ... Full text Link to item Cite

An updated management approach of Pompe disease patients with high-sustained anti-rhGAA IgG antibody titers: experience with bortezomib-based immunomodulation.

Journal Article Front Immunol · 2024 INTRODUCTION: High sustained anti-rhGAA antibody titers (HSAT; ≥12,800) are directly linked to reduced efficacy of enzyme replacement therapy (ERT) and subsequent clinical deterioration in infantile-onset Pompe disease (IOPD). We have previously demonstrat ... Full text Link to item Cite

Optimizing treatment outcomes: immune tolerance induction in Pompe disease patients undergoing enzyme replacement therapy.

Journal Article Front Immunol · 2024 INTRODUCTION: Pompe disease, a lysosomal storage disorder, is characterized by acid α-glucosidase (GAA) deficiency and categorized into two main subtypes: infantile-onset Pompe disease (IOPD) and late-onset Pompe disease (LOPD). The primary treatment, enzy ... Full text Link to item Cite

Defects in Galactose Metabolism

Chapter · January 1, 2024 Full text Cite

Glycogen Storage Diseases

Chapter · January 1, 2024 Full text Cite

Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry.

Journal Article Orphanet J Rare Dis · December 6, 2023 BACKGROUND: Studies indicate that doses of alglucosidase alfa (ALGLU) higher than label dose (20 mg/kg every other week) improve clinical outcomes in infantile-onset Pompe disease (IOPD). We investigated data from the Pompe Registry to determine the associ ... Full text Link to item Cite

Pneumonia vaccine response in individuals with Down syndrome at three specialty clinics.

Journal Article Am J Med Genet C Semin Med Genet · December 2023 Individuals with Down syndrome (DS) have been particularly impacted by respiratory conditions, such as pneumonia. However, the description of co-occurring recurrent infections, the response to pneumococcal immunization, and the association of these was pre ... Full text Link to item Cite

Intrauterine enzyme replacement therapies for lysosomal storage disorders: Current developments and promising future prospects.

Journal Article Prenat Diagn · December 2023 Lysosomal storage disorders (LSDs) are a group of monogenic condition, with many characterized by an enzyme deficiency leading to the accumulation of an undegraded substrate within the lysosomes. For those LSDs, postnatal enzyme replacement therapy (ERT) r ... Full text Link to item Cite

Measurement Properties of 2 Novel PROs, the Pompe Disease Symptom Scale and Pompe Disease Impact Scale, in the COMET Study

Journal Article Neurology Clinical Practice · October 8, 2023 Background and Objectives: The Pompe Disease Symptom Scale (PDSS) and Impact Scale (PDIS) were created to measure the severity of symptoms and functional limitations experienced by patients with late-onset Pompe disease (LOPD). The objectives of this analy ... Full text Cite

Glycogen storage diseases.

Journal Article Nat Rev Dis Primers · September 7, 2023 Glycogen storage diseases (GSDs) are a group of rare, monogenic disorders that share a defect in the synthesis or breakdown of glycogen. This Primer describes the multi-organ clinical features of hepatic GSDs and muscle GSDs, in addition to their epidemiol ... Full text Link to item Cite

An exploratory study of plasma ceramides in comorbidities in Down syndrome.

Journal Article Am J Med Genet A · September 2023 Plasma ceramide levels (henceforth, "ceramides") are biomarkers of some diseases that are comorbidities of Down syndrome (DS). We sought to determine if comorbidities in DS were associated with ceramides, studying a convenience cohort of 35 study participa ... Full text Link to item Cite

Development of high sustained anti-drug antibody titers and corresponding clinical decline in a late-onset Pompe disease patient after 11+ years on enzyme replacement therapy.

Journal Article Mol Genet Metab Rep · September 2023 A late-onset Pompe disease patient developed high sustained antibody titers (HSAT) of ≥51,200 after 11+ years on alglucosidase alfa and previous tolerance. There was a corresponding worsening of motor function and rise in urinary glucose tetrasaccharide (G ... Full text Link to item Cite

Muscle ultrasound in patients with late-onset Pompe disease identified by newborn screening.

Journal Article Mol Genet Metab Rep · September 2023 IMPORTANCE: Implementation of newborn screening (NBS) in the United States now detects infants with late-onset Pompe disease (LOPD), a lysosomal storage disease characterized by slowly progressive muscle weakness, and detailed clinical evaluation has ident ... Full text Link to item Cite

Screening data from 19 patients with late-onset Pompe disease for a phase I clinical trial of AAV8 vector-mediated gene therapy.

Journal Article JIMD Rep · September 2023 Late-onset Pompe disease (LOPD) is a multisystem disorder with significant myopathy. The standard treatment is enzyme replacement therapy (ERT), a therapy that is lifesaving, yet with limitations. Clinical trials have emerged for other potential treatment ... Full text Link to item Cite

Development of hepatocellular adenomas in a patient with glycogen storage disease Ia treated with growth hormone therapy.

Journal Article JIMD Rep · September 2023 Glycogen storage disease Ia (GSD Ia), also known as von Gierke disease, is caused by pathogenic variants in the G6PC1 gene (OMIM 232200) which encodes glucose-6-phosphatase. Deficiency of glucose-6-phosphatase impairs the processes of gluconeogenesis and g ... Full text Link to item Cite

Successful AAV8 readministration: Suppression of capsid-specific neutralizing antibodies by a combination treatment of bortezomib and CD20 mAb in a mouse model of Pompe disease.

Journal Article J Gene Med · August 2023 BACKGROUND: A major challenge to adeno-associated virus (AAV)-mediated gene therapy is the presence of anti-AAV capsid neutralizing antibodies (NAbs), which can block viral vector transduction even at very low titers. In the present study, we examined the ... Full text Open Access Link to item Cite

Speech Disorders in Children With Pompe Disease: Articulation, Resonance, and Voice Measures.

Journal Article Am J Speech Lang Pathol · July 10, 2023 PURPOSE: Children with Pompe disease, a rare genetic metabolic myopathy, often have speech impairments. In this study, we provide a comprehensive description of articulation, resonance, and voice in children with Pompe disease. METHOD: Fifteen children wit ... Full text Link to item Cite

Phase I study of liver depot gene therapy in late-onset Pompe disease.

Journal Article Mol Ther · July 5, 2023 Gene therapy with an adeno-associated virus serotype 8 (AAV8) vector (AAV8-LSPhGAA) could eliminate the need for enzyme replacement therapy (ERT) by creating a liver depot for acid α-glucosidase (GAA) production. We report initial safety and bioactivity of ... Full text Link to item Cite

Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks: A Phase 3 Randomized Clinical Trial.

Journal Article JAMA Neurol · June 1, 2023 IMPORTANCE: In the previously reported Comparative Enzyme Replacement Trial With neoGAA Versus rhGAA (COMET) trial, avalglucosidase alfa treatment for 49 weeks showed clinically meaningful improvements in upright forced vital capacity (FVC) percent predict ... Full text Link to item Cite

In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease

Journal Article Obstetrical and Gynecological Survey · June 1, 2023 Full text Cite

Growth and disease burden in children with hypophosphatasia.

Journal Article Endocr Connect · May 1, 2023 OBJECTIVE: Hypophosphatasia, an inborn error of metabolism characterized by impaired bone mineralization, can affect growth. This study evaluated relationships between anthropometric parameters (height, weight, and body mass index) and clinical manifestati ... Full text Link to item Cite

Outside the fiber: Endomysial stromal and capillary pathology in skeletal muscle may impede infusion therapy in infantile-onset Pompe disease.

Journal Article J Neuropathol Exp Neurol · March 20, 2023 The survival of infantile-onset Pompe disease (IOPD) patients has improved dramatically since the introduction of enzyme replacement therapy (ERT) with a1glucosidase alfa. However, long-term IOPD survivors on ERT demonstrate motor deficits indicating that ... Full text Link to item Cite

Cardiometabolic profiles in children and adults with overweight and obesity and down syndrome.

Journal Article Am J Med Genet A · March 2023 Individuals with Down syndrome (DS) are at increased risk for being overweight/obese, but the associated cardiometabolic risk (CR) is not clear. Cross-sectional anthropometric and clinical laboratory data from a multi-site, international cohort of individu ... Full text Link to item Cite

Are we prepared to deliver gene-targeted therapies for rare diseases?

Journal Article Am J Med Genet C Semin Med Genet · March 2023 The cost and time needed to conduct whole-genome sequencing (WGS) have decreased significantly in the last 20 years. At the same time, the number of conditions with a known molecular basis has steadily increased, as has the number of investigational new dr ... Full text Link to item Cite

Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.

Journal Article Mol Genet Metab · March 2023 Glycogen storage disease type IV (GSD IV) is an ultra-rare autosomal recessive disorder caused by pathogenic variants in GBE1 which results in reduced or deficient glycogen branching enzyme activity. Consequently, glycogen synthesis is impaired and leads t ... Full text Link to item Cite

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.

Journal Article Genet Med · February 2023 PURPOSE: Mini-COMET (NCT03019406; Sanofi) is a phase 2, open-label, ascending-dose, 3-cohort study, evaluating avalglucosidase alfa safety, pharmacokinetics, and efficacy in individuals with infantile-onset Pompe disease aged <18 years who previously recei ... Full text Link to item Cite

Impact of muscular symptoms and/or pain on disease characteristics, disability, and quality of life in adult patients with hypophosphatasia: A cross-sectional analysis from the Global HPP Registry.

Journal Article Front Endocrinol (Lausanne) · 2023 INTRODUCTION: Hypophosphatasia (HPP) manifests in adults as fractures/pseudofractures, pain, muscle weakness, and other functional impairments. Better phenotypic disease characterization is needed to help recognize disability and treat patients with HPP. M ... Full text Link to item Cite

Monitoring and Management of Respiratory Function in Pompe Disease: Current Perspectives.

Journal Article Ther Clin Risk Manag · 2023 Pompe disease (PD) is a neuromuscular disorder caused by a deficiency of acid alpha-glucosidase (GAA) - a lysosomal enzyme responsible for hydrolyzing glycogen. GAA deficiency leads to accumulation of glycogen in lysosomes, causing cellular disruption. The ... Full text Link to item Cite

Case report: Expanding the understanding of the adult polyglucosan body disease continuum: novel presentations, diagnostic pitfalls, and clinical pearls.

Journal Article Front Genet · 2023 Introduction: Adult polyglucosan body disease (APBD) has long been regarded as the adult-onset form of glycogen storage disease type IV (GSD IV) and is caused by biallelic pathogenic variants in GBE1. Advances in the understanding of the natural history of ... Full text Link to item Cite

Immunophenotype associated with high sustained antibody titers against enzyme replacement therapy in infantile-onset Pompe disease.

Journal Article Front Immunol · 2023 INTRODUCTION: The efficacy of enzyme replacement therapy (ERT) with alglucosidase alfa for infantile-onset Pompe disease (IOPD) is limited in some patients due to the development of high and sustained antibody titers (HSAT; ≥12,800). METHODS: We carried ou ... Full text Link to item Cite

Suppression of pullulanase-induced cytotoxic T cell response with a dual promoter in GSD IIIa mice.

Journal Article JCI Insight · December 8, 2022 Glycogen debranching enzyme deficiency in glycogen storage disease type III (GSD III) results in excessive glycogen accumulation in multiple tissues, primarily the liver, heart, and skeletal muscle. We recently reported that an adeno-associated virus vecto ... Full text Open Access Link to item Cite

In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease.

Journal Article N Engl J Med · December 8, 2022 Patients with early-onset lysosomal storage diseases are ideal candidates for prenatal therapy because organ damage starts in utero. We report the safety and efficacy results of in utero enzyme-replacement therapy (ERT) in a fetus with CRIM (cross-reactive ... Full text Link to item Cite

Glucosylsphingosine (Lyso-Gb1): An Informative Biomarker in the Clinical Monitoring of Patients with Gaucher Disease.

Journal Article Int J Mol Sci · November 29, 2022 Historically, disease burden and treatment responses in patients with Gaucher disease (GD) was assessed by monitoring clinical data, laboratory, imaging, chitotriosidase (CHITO), and other biomarkers; however, these biomarkers lack specificity and CHITO is ... Full text Open Access Link to item Cite

Clinical insights from Wolman disease: Evaluating infantile hepatosplenomegaly.

Journal Article Am J Med Genet A · November 2022 There is a broad differential diagnosis of infantile hepatosplenomegaly, with some etiologies being debilitating and treatable. A structured approach to history, examination, and laboratory and radiographic findings is important in diagnosis. Herein, we pr ... Full text Link to item Cite

Rare lysosomal disease registries: lessons learned over three decades of real-world evidence.

Journal Article Orphanet J Rare Dis · October 17, 2022 Lysosomal storage disorders (LSD) are rare diseases, caused by inherited deficiencies of lysosomal enzymes/transporters, that affect 1 in 7000 to 1 in 8000 newborns. Individuals with LSDs face long diagnostic journeys during which debilitating and life-thr ... Full text Link to item Cite

Unexplained regression in Down syndrome: Management of 51 patients in an international patient database.

Journal Article Am J Med Genet A · October 2022 Research to guide clinicians in the management of the devastating regression which can affect adolescents and young adults with Down syndrome is limited. A multi-site, international, longitudinal cohort of individuals with a clinical diagnosis of Unexplain ... Full text Link to item Cite

Plain language summary: How the Pompe Registry is helping to identify and explain gene changes in Pompe disease

Journal Article Future Rare Diseases · October 1, 2022 What is this summary about? This is a summary of an article originally published in the journal Human Mutation. Pompe disease is a rare genetic disorder. In the USA, one person in every 10,000 to 28,000 people is born with Pompe disease. Pompe disease deve ... Full text Cite

What's new and what's next for gene therapy in Pompe disease?

Journal Article Expert Opin Biol Ther · September 2022 INTRODUCTION: Pompe disease is an autosomal recessive disorder caused by a deficiency of acid-α-glucosidase (GAA), an enzyme responsible for hydrolyzing lysosomal glycogen. A lack of GAA leads to accumulation of glycogen in the lysosomes of cardiac, skelet ... Full text Link to item Cite

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.

Journal Article Mol Genet Metab Rep · September 2022 Infantile onset Pompe disease (IOPD) is a rare devastating disease that presents in early infancy with rapidly progressive hypertrophic cardiomyopathy, severe generalized myopathy and death within the first year of life. The emergence of enzyme replacement ... Full text Link to item Cite

Long-term Safety and Efficacy of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease.

Journal Article Neurology · August 1, 2022 BACKGROUND AND OBJECTIVES: Pompe disease is a rare, progressive neuromuscular disorder caused by deficiency of lysosomal acid α-glucosidase (GAA) and subsequent glycogen accumulation. Avalglucosidase alfa, a recombinant human GAA enzyme replacement therapy ... Full text Link to item Cite

Clinical profiles of treated and untreated adults with hypophosphatasia in the Global HPP Registry.

Journal Article Orphanet J Rare Dis · July 19, 2022 BACKGROUND: The clinical signs and symptoms of hypophosphatasia (HPP) can manifest during any stage of life. The age at which a patient's symptoms are reported can impact access to targeted treatment with enzyme replacement therapy (asfotase alfa), as this ... Full text Link to item Cite

Glycogen Storage Diseases

Chapter · June 15, 2022 Summary: In glycogen storage diseases (GSDs), there is excessive glycogen build-up in the muscle, liver, and/or heart. This leads to a number of clinical manifestations with a variable spectrum. The GSDs are broadly classified based on the type of tissues ... Full text Link to item Cite

Very early-onset inflammatory bowel disease: Novel description in glycogen storage disease type Ia.

Journal Article Mol Genet Metab Rep · June 2022 Although inflammatory bowel disease is a well-described feature of glycogen storage disease type Ib, it has been reported in only a small number of individuals with glycogen storage disease type Ia (GSDIa). We describe, to our knowledge, the first patient ... Full text Link to item Cite

Beyond predicting diagnosis: Is there a role for measuring biotinidase activity in liver glycogen storage diseases?

Journal Article Mol Genet Metab Rep · June 2022 INTRODUCTION: Biotinidase synthesis is needed to recycle biotin for essential metabolic reactions. Biotinidase activity is lower than normal levels in advanced liver disease but is higher in hepatic glycogen storage disorders (GSDs), however the cause of t ... Full text Open Access Link to item Cite

The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?

Journal Article Mol Genet Metab · May 2022 Gaucher disease (GD) is an autosomal recessive inherited lysosomal storage disease that often presents in early childhood and is associated with damage to multiple organ systems. Many challenges associated with GD diagnosis and management arise from the co ... Full text Link to item Cite

Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening.

Journal Article Mol Genet Metab · March 2022 PURPOSE: Thoroughly phenotype children with late-onset Pompe disease (LOPD) diagnosed via newborn screening (NBS) to provide guidance for long-term follow up. METHODS: Twenty infants ages 6-21 months with LOPD diagnosed by NBS underwent systematic clinical ... Full text Open Access Link to item Cite

Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort.

Journal Article Cardiol Young · March 2022 Pompe disease results from lysosomal acid α-glucosidase deficiency, which leads to cardiomyopathy in all infantile-onset and occasional late-onset patients. Cardiac assessment is important for its diagnosis and management. This article presents unpublished ... Full text Link to item Cite

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.

Journal Article J Neurodev Disord · February 5, 2022 BACKGROUND: There are currently no pharmacological therapies to address the intellectual disability associated with Down syndrome. Excitatory/inhibitory imbalance has been hypothesized to contribute to impairments in cognitive functioning in Down syndrome. ... Full text Link to item Cite

Screening, patient identification, evaluation, and treatment in patients with Gaucher disease: Results from a Delphi consensus.

Journal Article Molecular genetics and metabolism · February 2022 Several guidelines are available for identification and management of patients with Gaucher disease, but the most recent guideline was published in 2013. Since then, there have been significant advances in newborn screening, phenotypic characterization, id ... Full text Cite

In utero enzyme replacement therapy in a fetus with infantile-onset Pompe disease

Conference Molecular Genetics and Metabolism · February 2022 Full text Cite

A novel approach to characterize phenotypic variation in GSD IV: Reconceptualizing the clinical continuum.

Journal Article Front Genet · 2022 Purpose: Glycogen storage disease type IV (GSD IV) has historically been divided into discrete hepatic (classic hepatic, non-progressive hepatic) and neuromuscular (perinatal-congenital neuromuscular, juvenile neuromuscular) subtypes. However, the extent t ... Full text Link to item Cite

Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort.

Journal Article J Neuromuscul Dis · 2022 BACKGROUND: ADVANCE (NCT01526785) presented an opportunity to obtain a more nuanced understanding of motor function changes in treatment-experienced children with Pompe disease receiving 4000L-production-scale alglucosidase alfa for 52 weeks. OBJECTIVE: To ... Full text Link to item Cite

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.

Journal Article Front Genet · 2022 Purpose: The addition of Pompe disease (Glycogen Storage Disease Type II) to the Recommended Uniform Screening Panel in the United States has led to an increase in the number of variants of uncertain significance (VUS) and novel variants identified in the ... Full text Link to item Cite

Pompe disease

Internet Publication · December 21, 2021 Overview The authors describe the clinical, pathological, biochemical, and molecular features of Pompe disease, which is a heterogeneous glycogen storage disease. Tremendous advances in infantile Pompe disease have occurred since the development of enzyme ... Link to item Cite

Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial.

Journal Article Lancet Neurol · December 2021 BACKGROUND: Pompe disease is a rare, progressive neuromuscular disorder caused by deficiency of acid α-glucosidase (GAA) and accumulation of lysosomal glycogen. We assessed the safety and efficacy of avalglucosidase alfa, a recombinant human GAA enzyme rep ... Full text Link to item Cite

A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III.

Journal Article Mol Genet Metab Rep · December 2021 INTRODUCTION: A deficiency of glycogen debrancher enzyme in patients with glycogen storage disease type III (GSD III) manifests with hepatic, cardiac, and muscle involvement in the most common subtype (type a), or with only hepatic involvement in patients ... Full text Open Access Link to item Cite

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.

Journal Article Lancet Neurol · December 2021 BACKGROUND: Pompe disease is a rare disorder characterised by progressive loss of muscle and respiratory function due to acid α-glucosidase deficiency. Enzyme replacement therapy with recombinant human acid α-glucosidase, alglucosidase alfa, is the first a ... Full text Link to item Cite

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.

Journal Article Mol Genet Metab · November 2021 INTRODUCTION: Early recognized manifestations of GSD III include hypoglycemia, hepatomegaly, and elevated liver enzymes. Motor symptoms such as fatigue, muscle weakness, functional impairments, and muscle wasting are typically reported in the 3rd to 4th de ... Full text Link to item Cite

A Systematic Review and Meta-Analysis of Enzyme Replacement Therapy in Late-Onset Pompe Disease.

Journal Article J Clin Med · October 21, 2021 UNLABELLED: Pompe disease (PD) is a glycogen storage disorder caused by deficient activity of acid alpha-glucosidase (GAA). We sought to review the latest available evidence on the safety and efficacy of recombinant human GAA enzyme replacement therapy (ER ... Full text Link to item Cite

Quantitative muscle ultrasound and electrical impedance myography in late onset Pompe disease: A pilot study of reliability, longitudinal change and correlation with function.

Journal Article Mol Genet Metab Rep · September 2021 BACKGROUND/OBJECTIVES: Late-onset Pompe disease (LOPD) is slowly progressive, making it difficult to assess clinical change and response to interventions. In this study, quantitative muscle ultrasonography (QMUS) and electrical impedance myography (EIM) we ... Full text Link to item Cite

Assessment of Dysphonia in Children with Pompe Disease Using Auditory-Perceptual and Acoustic/Physiologic Methods.

Journal Article J Clin Med · August 16, 2021 Bulbar and respiratory weakness occur commonly in children with Pompe disease and frequently lead to dysarthria. However, changes in vocal quality associated with this motor speech disorder are poorly described. The goal of this study was to characterize t ... Full text Open Access Link to item Cite

Targeted long-read sequencing identifies missing disease-causing variation.

Journal Article Am J Hum Genet · August 5, 2021 Despite widespread clinical genetic testing, many individuals with suspected genetic conditions lack a precise diagnosis, limiting their opportunity to take advantage of state-of-the-art treatments. In some cases, testing reveals difficult-to-evaluate stru ... Full text Link to item Cite

Interpretation of Incidental Genetic Findings Localizing to Genes Associated With Cardiac Channelopathies and Cardiomyopathies.

Journal Article Circ Genom Precis Med · August 2021 Recent advances in next-genetic sequencing technology have facilitated an expansion in the use of exome and genome sequencing in the research and clinical settings. While this has aided in the genetic diagnosis of individuals with atypical clinical present ... Full text Link to item Cite

New Insights into Gastrointestinal Involvement in Late-Onset Pompe Disease: Lessons Learned from Bench and Bedside.

Journal Article J Clin Med · July 30, 2021 BACKGROUND: There are new emerging phenotypes in Pompe disease, and studies on smooth muscle pathology are limited. Gastrointestinal (GI) manifestations are poorly understood and underreported in Pompe disease. METHODS: To understand the extent and the eff ... Full text Open Access Link to item Cite

Characterization of liver GSD IX γ2 pathophysiology in a novel Phkg2-/- mouse model.

Journal Article Mol Genet Metab · July 2021 INTRODUCTION: Liver Glycogen Storage Disease IX is a rare metabolic disorder of glycogen metabolism caused by deficiency of the phosphorylase kinase enzyme (PhK). Variants in the PHKG2 gene, encoding the liver-specific catalytic γ2 subunit of PhK, are asso ... Full text Open Access Link to item Cite

Tongue weakness and atrophy differentiates late-onset Pompe disease from other forms of acquired/hereditary myopathy.

Journal Article Mol Genet Metab · July 2021 Late-onset Pompe disease (LOPD) is an inherited autosomal recessive progressive metabolic myopathy that presents in the first year of life to adulthood. Clinical presentation is heterogeneous, differential diagnosis is challenging, and diagnostic delay is ... Full text Open Access Link to item Cite

The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease.

Journal Article Mol Genet Metab Rep · June 2021 Gaucher disease (GD), a lysosomal storage disorder caused by β-glucocerebrosidase deficiency, results in the accumulation of glucosylceramide and glucosylsphingosine. Glucosylsphingosine has emerged as a sensitive and specific biomarker for GD and treatmen ... Full text Open Access Link to item Cite

Three-dimensional tissue-engineered human skeletal muscle model of Pompe disease.

Journal Article Commun Biol · May 5, 2021 In Pompe disease, the deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA) causes skeletal and cardiac muscle weakness, respiratory failure, and premature death. While enzyme replacement therapy using recombinant human GAA (rhGAA) can significan ... Full text Open Access Link to item Cite

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.

Journal Article Genet Med · May 2021 PURPOSE: To assess the magnitude of benefit to early treatment initiation, enabled by newborn screening or prenatal diagnosis, in patients with cross-reactive immunological material (CRIM)-negative infantile Pompe disease (IPD), treated with enzyme replace ... Full text Link to item Cite

Late onset Pompe Disease in India - Beyond the Caucasian phenotype.

Journal Article Neuromuscul Disord · May 2021 We evaluated the clinical histories, motor and pulmonary functions, cardiac phenotypes and GAA genotypes of an Indian cohort of twenty patients with late onset Pompe disease (LOPD) in this multi-centre study. A mean age at onset of symptoms and diagnosis o ... Full text Link to item Cite

Investigation of ALPL variant states and clinical outcomes: An analysis of adults and adolescents with hypophosphatasia treated with asfotase alfa.

Journal Article Molecular genetics and metabolism · May 2021 BackgroundHypophosphatasia (HPP), a rare metabolic disease, can be inherited in an autosomal recessive (biallelic) or an autosomal dominant (monoallelic) manner. Most of the severe, early-onset, frequently lethal HPP in infants is acquired through ... Full text Cite

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.

Journal Article J Clin Med · April 28, 2021 With improved healthcare, the Down syndrome (DS) population is both growing and aging rapidly. However, with longevity comes a very high risk of Alzheimer's disease (AD). The LIFE-DSR study (NCT04149197) is a longitudinal natural history study recruiting 2 ... Full text Link to item Cite

Diurnal variability of glucose tetrasaccharide (Glc4) excretion in patients with glycogen storage disease type III.

Journal Article JIMD Rep · March 2021 AIM: The urinary glucose tetrasaccharide, Glcα1-6Glcα1-4Glcα1-4Glc (Glc4), is a glycogen limit dextrin that is elevated in patients with glycogen storage disease (GSD) type III. We evaluated the potential of uncooked cornstarch therapy to interfere with Gl ... Full text Link to item Cite

Down syndrome

Chapter · February 19, 2021 Down syndrome is the most common identifiable genetic cause of intellectual disability. The facial appearance of individuals with Down syndrome is highly characteristic and is frequently associated with other minor anomalies and malformations of other body ... Full text Open Access Link to item Cite

"Bull's eye" appearance of hepatocellular adenomas in patients with glycogen storage disease type I - atypical magnetic resonance imaging findings: Two case reports.

Journal Article World J Clin Cases · February 6, 2021 BACKGROUND: Hepatocellular adenomas are rare tumors that can occur in patients with glycogen storage disease type I. CASE SUMMARY: We herein report two cases of histologically proven hepatocellular adenomas in patients with glycogen storage disease type I. ... Full text Link to item Cite

Early diagnosis and treatment of infantile-onset Pompe disease via newborn screen

Conference Molecular Genetics and Metabolism · February 2021 Full text Cite

Pharmacodynamics of asfotase alfa in adults with pediatric-onset hypophosphatasia.

Journal Article Bone · January 2021 BACKGROUND: Hypophosphatasia (HPP) is the rare, inherited, metabolic bone disease characterized by low activity of the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP) leading to excess extracellular inorganic pyrophosphate (PPi) and pyridoxal ... Full text Link to item Cite

Quantitative whole-body magnetic resonance imaging in children with Pompe disease: Clinical tools to evaluate severity of muscle disease.

Journal Article JIMD Rep · January 2021 OBJECTIVE: Since the introduction of enzyme replacement therapy (ERT) with alglucosidase alfa, there has been increased survival in patients with Pompe disease. It is essential to characterize and quantify the burden of disease in these patients. Here, we ... Full text Link to item Cite

Case Report: Improvement Following Immunotherapy in an Individual With Seronegative Down Syndrome Disintegrative Disorder.

Journal Article Front Neurol · 2021 Down syndrome disintegrative disorder (DSDD) is a condition of unknown etiology characterized by acute cognitive decline, catatonia, insomnia, and autistic features in individuals with Down syndrome. A prior report of four patients with DSDD suggested a po ... Full text Link to item Cite

Immune Tolerance-Adjusted Personalized Immunogenicity Prediction for Pompe Disease.

Journal Article Front Immunol · 2021 Infantile-onset Pompe disease (IOPD) is a glycogen storage disease caused by a deficiency of acid alpha-glucosidase (GAA). Treatment with recombinant human GAA (rhGAA, alglucosidase alfa) enzyme replacement therapy (ERT) significantly improves clinical out ... Full text Link to item Cite

Anaesthetic Management of a Patient with Myasthenia Gravis Posted for Tonsillectomy- A Case Report

Journal Article JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH · 2021 Myasthenia gravis is a chronic autoimmune disease of neuromuscular junction which causes skeletal muscle weakness and fatigability, characterised by decrement in postsynaptic acetylcholine receptor at neuromuscular junction caused by auto-antibodie ... Full text Cite

Popliteal Nerve Block as an Alternative to Spinal Anaesthesia for Ankle Surgery in Comorbid Patient- A Case Report

Journal Article JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH · 2021 In high-risk patients with significant cardiovascular and other systemic disorders, administration of central neuraxial block or general anaesthesia is usually associated with adverse haemodynamic effects and high perioperative mortality. This case ... Full text Cite

Prenatal Diagnosis of Disorders of Carbohydrate Metabolism

Chapter · January 1, 2021 Inherited disorders of carbohydrate metabolism result from defects in enzymes or transport proteins involved in glycolysis, gluconeogenesis, or glycogen metabolism. The carbohydrates to be discussed include three monosaccharides: glucose, galactose, and fr ... Full text Cite

Behavioral, social and school functioning in children with Pompe disease.

Journal Article Mol Genet Metab Rep · December 2020 PURPOSE: To improve our understanding of the behavioral, social, and emotional functioning of children and adolescents with Pompe disease. METHOD: Parents/guardians of 21 children (age 5-18y) with infantile (IPD) or late-onset (LOPD) Pompe disease on long- ... Full text Open Access Link to item Cite

Multigenerational case examples of hypophosphatasia: Challenges in genetic counseling and disease management.

Journal Article Mol Genet Metab Rep · December 2020 Hypophosphatasia (HPP) is an inherited metabolic condition caused by pathogenic mutations in the ALPL gene. This leads to deficiency of tissue non-specific alkaline phosphatase (TNSALP), resulting in decreased mineralization of the bones and/or teeth and m ... Full text Link to item Cite

Response to Heiner-Fokkema et al.

Journal Article Genet Med · November 2020 Full text Link to item Cite

Respiratory muscle training in late-onset Pompe disease: Results of a sham-controlled clinical trial.

Journal Article Neuromuscul Disord · November 2020 To address progressive respiratory muscle weakness in late-onset Pompe disease (LOPD), we developed a 12-week respiratory muscle training (RMT) program. In this exploratory, double-blind, randomized control trial, 22 adults with LOPD were randomized to RMT ... Full text Open Access Link to item Cite

Benign or not benign? Deep phenotyping of liver Glycogen Storage Disease IX.

Journal Article Mol Genet Metab · November 2020 INTRODUCTION: Liver Glycogen Storage Disease Type IX (GSD IX) is one of the most common forms of GSD. It is caused by a deficiency in enzyme phosphorylase kinase (PhK), a complex, hetero-tetrameric enzyme comprised of four subunits - α, β, γ, and δ - each ... Full text Link to item Cite

Burden of Illness in Adults With Hypophosphatasia: Data From the Global Hypophosphatasia Patient Registry.

Journal Article J Bone Miner Res · November 2020 Hypophosphatasia (HPP) is a rare, inherited, metabolic disease caused by deficient tissue non-specific alkaline phosphatase activity. This study aims to assess patient-reported pain, disability and health-related quality of life (HRQoL) in a real-world coh ... Full text Link to item Cite

Use of the patient-reported outcomes measurement information system (PROMIS®) to assess late-onset Pompe disease severity.

Journal Article J Patient Rep Outcomes · October 9, 2020 BACKGROUND: Patient-Reported Outcomes provide an opportunity for patients to establish dialogue with pharmaceutical or biotechnology companies about their health conditions without interpretation by a clinician or anyone else. However, Patient-Reported Out ... Full text Link to item Cite

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.

Journal Article J Neurol · October 2020 OBJECTIVE: To examine respiratory muscle function among late-onset Pompe disease (LOPD) patients in the Pompe Registry (NCT00231400/Sanofi Genzyme) during enzyme replacement therapy (ERT) with alglucosidase alfa by assessing the longitudinal course of forc ... Full text Link to item Cite

The potential impact of timing of IVIG administration on the efficacy of rituximab for immune tolerance induction for patients with Pompe disease.

Journal Article Clin Immunol · October 2020 Immune modulation with rituximab, methotrexate, and intravenous immunoglobulin (IVIG) has shown great success in inducing immune tolerance in a large cohort of enzyme replacement therapy (ERT)-naïve infantile Pompe disease patients. Antibody-dependent cell ... Full text Link to item Cite

Pompe disease

Internet Publication · October 1, 2020 The author describes the clinical, pathological, biochemical, and molecular features of Pompe disease, which is an underrecognized and extremely heterogeneous glycogen storage disease. Tremendous advances in infantile-onset Pompe disease have occurred sinc ... Link to item Cite

Disorders of Carbohydrate Metabolism

Chapter · September 30, 2020 Inborn errors of carbohydrate metabolism covered in this chapter include disaccharidase deficiencies, disorders of monosaccharide metabolism, glycogen storage diseases, and gluconeogenic disorders. This chapter focuses mainly on clinical aspects, genetics ... Link to item Cite

A Novel Gene Therapy Approach for GSD III Using an AAV Vector Encoding a Bacterial Glycogen Debranching Enzyme.

Journal Article Mol Ther Methods Clin Dev · September 11, 2020 Glycogen storage disease type III (GSD III) is an inherited disorder caused by a deficiency of glycogen debranching enzyme (GDE), which results in the accumulation of abnormal glycogen (limit dextrin) in the cytoplasm of liver, heart, and skeletal muscle c ... Full text Open Access Link to item Cite

Pregnancy Outcomes in Late Onset Pompe Disease.

Journal Article Life (Basel) · September 11, 2020 There is limited data on pregnancy outcomes in Pompe Disease (PD) resulting from deficiency of the lysosomal enzyme acid alpha-glucosidase. Late-onset PD is characterized by progressive proximal muscle weakness and decline of respiratory function secondary ... Full text Link to item Cite

Real-world effectiveness of eliglustat in treatment-naïve and switch patients enrolled in the International Collaborative Gaucher Group Gaucher Registry.

Journal Article Am J Hematol · September 2020 Eliglustat is a first-line oral therapy for adults with Gaucher disease type 1 (GD1) with extensive, intermediate, or poor CYP2D6-metabolizer phenotypes (90% of patients). We report real-world outcomes after 2 years of eliglustat therapy in the Internation ... Full text Link to item Cite

Novel approaches to quantify CNS involvement in children with Pompe disease.

Journal Article Neurology · August 2020 ObjectiveTo characterize the extent of CNS involvement in children with Pompe disease using brain MRI and developmental assessments.MethodsThe study included 14 children (ages 6-18 years) with infantile Pompe disease (IPD) (n = 12) or lat ... Full text Open Access Cite

Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations.

Journal Article J Inherit Metab Dis · July 2020 A potential role of dietary lipids in the management of hepatic glycogen storage diseases (GSDs) has been proposed, but no consensus on management guidelines exists. The aim of this study was to describe current experiences with dietary lipid manipulations ... Full text Link to item Cite

Genotypic-phenotypic heterogeneity of δβ-thalassemia and hereditary persistence of fetal hemoglobin (HPFH) in India.

Journal Article Ann Hematol · July 2020 Large deletions in the β-globin gene cluster lead to increased HbF levels by delaying the γ- to β-globin switch process. However, these deletions when inherited as a homozygous condition or when co-inherited with β-thalassemia result in variable clinical p ... Full text Link to item Cite

Further understanding the connection between Alzheimer's disease and Down syndrome.

Journal Article Alzheimers Dement · July 2020 Improved medical care of individuals with Down syndrome (DS) has led to an increase in life expectancy to over the age of 60 years. In conjunction, there has been an increase in age-related co-occurring conditions including Alzheimer's disease (AD). Unders ... Full text Link to item Cite

Whole-body magnetic resonance imaging in late-onset Pompe disease: Clinical utility and correlation with functional measures.

Journal Article J Inherit Metab Dis · May 2020 Whole-body magnetic resonance imaging (WBMRI) has clinical utility in measuring the amount of fatty infiltration in late-onset Pompe disease (LOPD). Muscle strength and function testing also provide valuable insight to the progression of myopathy seen in t ... Full text Link to item Cite

Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature.

Journal Article Genet Med · May 2020 PURPOSE: Enzyme replacement therapy (ERT) with recombinant human acid-α glucosidase (rhGAA) at standard dose of 20 mg/kg every other week is insufficient to halt the long-term progression of myopathy in Pompe disease. METHODS: We conducted a retrospective ... Full text Open Access Link to item Cite

Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database.

Journal Article Genet Med · April 2020 PURPOSE: An entity of regression in Down syndrome (DS) exists that affects adolescents and young adults and differs from autism spectrum disorder and Alzheimer disease. METHODS: Since 2017, an international consortium of DS clinics assembled a database of ... Full text Link to item Cite

Response to Zhang et al.

Journal Article Genet Med · March 2020 Full text Link to item Cite

Pulmonary outcome measures in long-term survivors of infantile Pompe disease on enzyme replacement therapy: A case series.

Journal Article Pediatr Pulmonol · March 2020 OBJECTIVES: To report the respiratory function of school-aged children with infantile Pompe disease (IPD) who started enzyme replacement therapy (ERT) in infancy and early childhood. STUDY DESIGN: This is a retrospective chart review of pulmonary function ... Full text Link to item Cite

Detection of iron deficiency in children with Down syndrome.

Journal Article Genet Med · February 2020 PURPOSE: Current American Academy of Pediatrics guidelines for children with Down syndrome (DS) recommend a complete blood count (CBC) at birth and hemoglobin annually to screen for iron deficiency (ID) and ID anemia (IDA) in low-risk children. We aimed to ... Full text Link to item Cite

Evaluation of antihypertensive drugs in combination with enzyme replacement therapy in mice with Pompe disease.

Journal Article Mol Genet Metab · February 2020 UNLABELLED: Pompe disease is caused by the deficiency of lysosomal acid α-glucosidase (GAA) leading to progressive myopathy. Enzyme replacement therapy (ERT) with recombinant human (rh) GAA has limitations, including inefficient uptake of rhGAA in skeletal ... Full text Open Access Link to item Cite

Improved muscle function in a phase I/II clinical trial of albuterol in Pompe disease.

Journal Article Mol Genet Metab · February 2020 This 24-week, Phase I/II, double-blind, randomized, placebo-controlled study investigated the safety and efficacy of extended-release albuterol in late-onset Pompe disease stably treated with enzyme replacement therapy at the standard dose for 4.9 (1.0-9.4 ... Full text Open Access Link to item Cite

A phase 1 study of gene therapy with ACTUS-101 in late-onset Pompe disease

Conference Molecular Genetics and Metabolism · February 2020 Full text Cite

Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe Disease.

Journal Article J Pediatr · January 2020 OBJECTIVES: To evaluate the clinical and molecular spectrum, and factors affecting clinical outcome of patients in India diagnosed with infantile-onset Pompe disease (IOPD). STUDY DESIGN: In this multicenter, cross-sectional study, we evaluated the records ... Full text Link to item Cite

Training, detraining, and retraining: Two 12-week respiratory muscle training regimens in a child with infantile-onset Pompe disease.

Journal Article J Pediatr Rehabil Med · 2020 BACKGROUND: Respiratory muscle weakness is a primary cause of morbidity and mortality in patients with Pompe disease. We previously described the effects of our 12-week respiratory muscle training (RMT) regimen in 8 adults with late-onset Pompe disease [1] ... Full text Open Access Link to item Cite

Immune Modulation for Enzyme Replacement Therapy in A Female Patient With Hunter Syndrome.

Journal Article Front Immunol · 2020 A 3.5 year old Hispanic female presented with signs and symptoms concerning for MPS II (Hunter Syndrome). The diagnosis of MPS II was confirmed by enzyme and molecular testing. Genetic evaluation revealed undetectable plasma iduronate-2-sulfatase enzyme ac ... Full text Link to item Cite

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.

Journal Article Front Immunol · 2020 Immune tolerance induction (ITI) with a short-course of rituximab, methotrexate, and/or IVIG in the enzyme replacement therapy (ERT)-naïve setting has prolonged survival and improved clinical outcomes in patients with infantile Pompe disease (IPD) lacking ... Full text Link to item Cite

A Race Against Time-Changing the Natural History of CRIM Negative Infantile Pompe Disease.

Journal Article Front Immunol · 2020 We report the clinical course of the first prenatally diagnosed cross-reactive immunologic material (CRIM)-negative infantile Pompe disease (IPD) patient [homozygous for c.2560C>T (p.Arg854X) variant in the GAA gene] to undergo prophylactic immune toleranc ... Full text Link to item Cite

Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring.

Journal Article Genet Med · December 2019 PURPOSE: In glycogen storage disease type III (GSD III), liver aminotransferases tend to normalize with age giving an impression that hepatic manifestations improve with age. However, despite dietary treatment, long-term liver complications emerge. We pres ... Full text Link to item Cite

Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.

Journal Article Genet Med · November 2019 PURPOSE: To characterize clinical characteristics and genotypes of patients in the ADVANCE study of 4000 L-scale alglucosidase alfa (NCT01526785), the largest prospective United States Pompe disease cohort to date. METHODS: Patients aged ≥1 year with confi ... Full text Link to item Cite

GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.

Journal Article Hum Mutat · November 2019 Identification of variants in the acid α-glucosidase (GAA) gene in Pompe disease provides valuable insights and systematic overviews are needed. We report on the number, nature, frequency, and geographic distribution of GAA sequence variants listed in the ... Full text Link to item Cite

Gene therapy for glycogen storage diseases.

Journal Article Hum Mol Genet · October 1, 2019 The focus of this review is the development of gene therapy for glycogen storage diseases (GSDs). GSD results from the deficiency of specific enzymes involved in the storage and retrieval of glucose in the body. Broadly, GSDs can be divided into types that ... Full text Open Access Link to item Cite

Characterization of immune response in Cross-Reactive Immunological Material (CRIM)-positive infantile Pompe disease patients treated with enzyme replacement therapy.

Journal Article Mol Genet Metab Rep · September 2019 Enzyme replacement therapy (ERT) with rhGAA has improved clinical outcomes in infantile Pompe disease (IPD). A subset of CRIM-positive IPD patients develop high and sustained antibody titers (HSAT; ≥51,200) and/or sustained intermediate titer (SIT; ≥12,800 ... Full text Link to item Cite

Immunomodulatory, liver depot gene therapy for Pompe disease.

Journal Article Cell Immunol · August 2019 Pompe disease is caused by mutations in acid alpha glucosidase (GAA) that causes accumulation of lysosomal glycogen affecting the heart and skeletal muscles, and can be fatal. Enzyme replacement therapy (ERT) with recombinant human GAA (rhGAA) improves mus ... Full text Link to item Cite

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Journal Article Mol Genet Metab · August 2019 INTRODUCTION:: Morbidity and mortality in adults with late-onset Pompe disease (LOPD) results primarily from persistent progressive respiratory muscle weakness despite treatment with enzyme replacement therapy (ERT). To address this need, we have developed ... Full text Open Access Link to item Cite

Immunotherapy in selected patients with Down syndrome disintegrative disorder.

Journal Article Dev Med Child Neurol · July 2019 Down syndrome disintegrative disorder (DSDD) is an increasingly identified condition characterized by cognitive decline, autistic characteristics, insomnia, catatonia, and psychosis in adolescents and young adults with Down syndrome. Previously we reported ... Full text Link to item Cite

Ectopic Ocular Surface Calcification in Patients With Hypophosphatasia Treated With Asfotase Alfa.

Journal Article Cornea · July 2019 PURPOSE: To assess for ectopic ocular calcification in a series of patients with hypophosphatasia (HPP) treated with asfotase alfa, a recombinant tissue-nonspecific alkaline phosphatase. METHODS: This is a retrospective analysis of subjects enrolled at Duk ... Full text Link to item Cite

Auditory-Perceptual Speech Features in Children With Down Syndrome.

Journal Article Am J Intellect Dev Disabil · July 2019 Speech disorders occur commonly in individuals with Down syndrome (DS), although data regarding the auditory-perceptual speech features are limited. This descriptive study assessed 47 perceptual speech features during connected speech samples in 26 childre ... Full text Open Access Link to item Cite

Immunological challenges and approaches to immunomodulation in Pompe disease: a literature review.

Journal Article Ann Transl Med · July 2019 Pompe disease is an autosomal recessive disorder caused by a deficiency of acid alpha-glucosidase resulting in intralysosomal glycogen accumulation in multiple tissue types, especially cardiac, skeletal, and smooth muscle. Enzyme replacement therapy (ERT) ... Full text Link to item Cite

An emerging phenotype of central nervous system involvement in Pompe disease: from bench to bedside and beyond.

Journal Article Ann Transl Med · July 2019 Pompe disease (PD) is a lysosomal storage disorder caused by deficiency of the lysosomal enzyme acid-alpha glucosidase (GAA). Pathogenic variants in the GAA gene lead to excessive accumulation of lysosomal glycogen primarily in the cardiac, skeletal, and s ... Full text Open Access Link to item Cite

Liver depot gene therapy for Pompe disease.

Journal Article Ann Transl Med · July 2019 Gene therapy for Pompe disease has advanced to early phase clinical trials, based upon proof-of-concept data indicating that gene therapy could surpass the benefits of the current standard of care, enzyme replacement therapy (ERT). ERT requires frequent in ... Full text Link to item Cite

COMPARATIVE LIVER PATHOLOGY IN GLYCOGEN STORAGE DISEASE TYPE IIIA

Conference MOLECULAR GENETICS AND METABOLISM · July 1, 2019 Link to item Cite

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.

Journal Article Genet Med · April 2019 PURPOSE: To investigate immune tolerance induction with transient low-dose methotrexate (TLD-MTX) initiated with recombinant human acid α-glucosidase (rhGAA), in treatment-naïve cross-reactive immunologic material (CRIM)-positive infantile-onset Pompe dise ... Full text Link to item Cite

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).

Journal Article Genet Med · April 2019 PURPOSE: Glycogen storage disease (GSD) types VI and IX are rare diseases of variable clinical severity affecting primarily the liver. GSD VI is caused by deficient activity of hepatic glycogen phosphorylase, an enzyme encoded by the PYGL gene. GSD IX is c ... Full text Link to item Cite

Five-year efficacy and safety of asfotase alfa therapy for adults and adolescents with hypophosphatasia.

Journal Article Bone · April 2019 Hypophosphatasia (HPP) features low tissue-nonspecific alkaline phosphatase (TNSALP) isoenzyme activity resulting in extracellular accumulation of its substrates including pyridoxal 5'-phosphate (PLP), the principal circulating form of vitamin B6, and inor ... Full text Link to item Cite

Intravenous Injection of an AAV-PHP.B Vector Encoding Human Acid α-Glucosidase Rescues Both Muscle and CNS Defects in Murine Pompe Disease.

Journal Article Mol Ther Methods Clin Dev · March 15, 2019 Pompe disease, a severe and often fatal neuromuscular disorder, is caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). The disease is characterized by the accumulation of excess glycogen in the heart, skeletal muscle, and CNS. Curr ... Full text Open Access Link to item Cite

HLA- and genotype-based risk assessment model to identify infantile onset pompe disease patients at high-risk of developing significant anti-drug antibodies (ADA).

Journal Article Clin Immunol · March 2019 In Pompe disease, anti-drug antibodies (ADA) to acid alpha-glucosidase (GAA) enzyme replacement therapy contribute to early mortality. Assessing individual risk for ADA development is notoriously difficult in (CRIM-positive) patients expressing endogenous ... Full text Link to item Cite

COMPARATIVE LIVER PATHOLOGY IN GLYCOGEN STORAGE DISEASE TYPE IIIA

Conference MOLECULAR GENETICS AND METABOLISM · March 1, 2019 Link to item Cite

Diagnostic delay is common among patients with hypophosphatasia: initial findings from a longitudinal, prospective, global registry.

Journal Article BMC Musculoskelet Disord · February 14, 2019 BACKGROUND: Hypophosphatasia (HPP) is a rare, systemic disease caused by mutation(s) within the ALPL gene encoding tissue-nonspecific alkaline phosphatase (ALP). HPP has a heterogeneous presentation, which coupled with its rarity, often leads to missed/del ... Full text Link to item Cite

Bone manifestations in neuronopathic Gaucher disease while receiving high-dose enzyme replacement therapy.

Journal Article Mol Genet Metab · February 2019 Avascular necrosis (AVN), one type of bone infarction, is a major irreversible complication of Gaucher disease (GD). In this report, two pediatric patients with GD type 3, homozygous for the L483P pathogenic variant (formerly L444P), developed AVN despite ... Full text Link to item Cite

Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32-13 T > G variant.

Journal Article Mol Genet Metab · February 2019 BACKGROUND: Individuals with late-onset Pompe disease (LOPD) and the common c.-32-13 T > G variant are widely thought to have milder, adult-onset disease. This belief, and the consequent low suspicion of clinical involvement in children, has led to delays ... Full text Link to item Cite

Parent report of school functioning and behavior in children with Pompe disease

Conference Molecular Genetics and Metabolism · February 2019 Full text Cite

Evolving challenges in the era of newborn screening for Pompe disease

Conference Molecular Genetics and Metabolism · February 2019 Full text Cite

Neutropenia in glycogen storage disease Ib: outcomes for patients treated with granulocyte colony-stimulating factor.

Journal Article Curr Opin Hematol · January 2019 PURPOSE OF REVIEW: Glycogen storage disease Ib (GSD Ib) is characterized by hepatomegaly, hypoglycemia, neutropenia, enterocolitis and recurrent bacterial infections. It is attributable to mutations in G6PT1, the gene for the glucose-6-phosphate transporte ... Full text Open Access Link to item Cite

Adaptive behavior in adolescents and adults with Down syndrome: Results from a 6-month longitudinal study.

Journal Article Am J Med Genet A · January 2019 Measures of adaptive behavior are important in the assessment and treatment of individuals with intellectual disabilities (ID). The purpose of the current study was to evaluate the stability of an established and a novel measure of adaptive behavior over t ... Full text Link to item Cite

Corticobasal syndrome in a man with Gaucher disease type 1: Expansion of the understanding of the neurological spectrum.

Journal Article Mol Genet Metab Rep · December 2018 Gaucher disease (GD) is an autosomal recessive condition that results from a deficiency of the enzyme β-glucocerebrosidase. The increased risk of primary parkinsonism symptoms among individuals affected with GD and carriers for the disorder is well-documen ... Full text Open Access Link to item Cite

Hepatic Manifestations in Glycogen Storage Disease Type III

Journal Article Current Pathobiology Reports · December 1, 2018 Purpose of Review: Glycogen storage disease type III (GSD III) is an orphan disease that mainly affects the liver, heart, and skeletal muscles. It is caused by the deficiency of glycogen debranching enzyme (GDE), resulting in accumulation of glycogen (limi ... Full text Open Access Cite

Long-term complications of glycogen storage disease type Ia in the canine model treated with gene replacement therapy.

Conference J Inherit Metab Dis · November 2018 BACKGROUND: Glycogen storage disease type Ia (GSD Ia) in dogs closely resembles human GSD Ia. Untreated patients with GSD Ia develop complications associated with glucose-6-phosphatase (G6Pase) deficiency. Survival of human patients on intensive nutritiona ... Full text Link to item Cite

Role of continuous glucose monitoring in the management of glycogen storage disorders.

Journal Article J Inherit Metab Dis · November 2018 Management of liver glycogen storage diseases (GSDs) primarily involves maintaining normoglycemia through dietary modifications and regular glucose monitoring. Self-monitoring of blood glucose is typically done 3-6 times per day, and may not sufficiently c ... Full text Link to item Cite

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.

Journal Article Genet Med · October 2018 PURPOSE: Pompe disease results from lysosomal acid α-glucosidase (GAA) deficiency and its associated glycogen accumulation and muscle damage. Alglucosidase alfa (recombinant human GAA (rhGAA)) received approval in 2006 as a treatment for Pompe disease at t ... Full text Link to item Cite

Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology case.

Journal Article Cold Spring Harb Mol Case Stud · October 2018 Exome sequencing is increasingly being used to help diagnose pediatric neurology cases when clinical presentations are not specific. However, interpretation of equivocal results that include variants of uncertain significance remains a challenge. In those ... Full text Link to item Cite

Correction of Biochemical Abnormalities and Improved Muscle Function in a Phase I/II Clinical Trial of Clenbuterol in Pompe Disease.

Journal Article Mol Ther · September 5, 2018 This 52-week, phase I/II double-blind, randomized, placebo-controlled study investigated the novel use of clenbuterol in late-onset Pompe disease (LOPD) stably treated with ERT. Eleven of thirteen participants completed the study. No serious adverse events ... Full text Link to item Cite

Severe Cardiac Involvement Is Rare in Patients with Late-Onset Pompe Disease and the Common c.-32-13T>G Variant: Implications for Newborn Screening.

Journal Article J Pediatr · July 2018 Based on a review of a large patient cohort, published literature, and 3 newborn screening cohorts, we concluded that children diagnosed through newborn screening with late-onset Pompe disease and the common heterozygous c.-32-13T>G variant require frequen ... Full text Link to item Cite

Characteristics of 26 patients with type 3 Gaucher disease: A descriptive analysis from the Gaucher Outcome Survey.

Journal Article Mol Genet Metab Rep · March 2018 The Gaucher Outcome Survey (GOS) is an international disease-specific registry established in 2010 for patients with a confirmed diagnosis of Gaucher disease (GD), regardless of GD type or treatment status. Historically, there has been a limited understand ... Full text Link to item Cite

A FIRST REPORT OF CHOLANGIOCARCINOMA IN GSD I

Conference MOLECULAR GENETICS AND METABOLISM · March 1, 2018 Link to item Cite

CLINICAL COURSE AND OUTCOME IN ADULTS WITH PROPIONIC ACIDEMIA: CASE SERIES

Conference MOLECULAR GENETICS AND METABOLISM · March 1, 2018 Link to item Cite

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.

Journal Article Indian Pediatr · February 15, 2018 JUSTIFICATION: Gaucher disease (GD) is amongst the most frequently occurring lysosomal storage disorder in all ethnicities. The clinical manifestations and natural history of GD is highly heterogeneous with extreme geographic and ethnic variations. The lit ... Link to item Cite

Clinical trial of L-Carnitine and valproic acid in spinal muscular atrophy type I.

Journal Article Muscle Nerve · February 2018 INTRODUCTION: The aim of this study was to determine the safety and therapeutic potential of L-carnitine and valproic acid (VPA) in infants with spinal muscular atrophy (SMA). METHODS: Our investigation was an open-label phase 2 multicenter trial of L-carn ... Full text Link to item Cite

Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy.

Journal Article Mol Genet Metab · February 2018 BACKGROUND: Recombinant human acid α-glucosidase (rhGAA) enzyme replacement therapy (ERT) has prolonged survival in infantile Pompe disease (IPD), but has unmasked central nervous system (CNS) changes. METHODS: Brain imaging, consisting of computed tomogra ... Full text Link to item Cite

Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalation.

Journal Article Mol Genet Metab · February 2018 UNLABELLED: Patients with Pompe disease have realized significant medical benefits due to enzyme replacement therapy (ERT) infusions with alglucosidase alfa. However, regular infusions are time-consuming. Utilizing recommended infusion rates, infusion dura ... Full text Link to item Cite

Respiratory muscle training in Pompe disease

Conference Molecular Genetics and Metabolism · February 2018 Full text Cite

Lingual pathophysiology in late-onset Pompe disease

Conference Molecular Genetics and Metabolism · February 2018 Full text Cite

Cognition and brain involvement in infantile Pompe disease

Conference Molecular Genetics and Metabolism · February 2018 Full text Cite

The patient and clinician point of view: living with late-onset Pompe disease

Conference Molecular Genetics and Metabolism · February 2018 Full text Cite

Pompe disease

Internet Publication · February 1, 2018 Link to item Cite

Early Diagnosed and Treated Glutaric Acidemia Type 1 Female Presenting with Subependymal Nodules in Adulthood.

Chapter · 2018 Glutaric acidemia type 1 (GA-1, OMIM no. 231670) is an autosomal recessive disorder caused by the deficiency of glutaryl-CoA dehydrogenase (GCDH). The subsequent accumulation of the amino acids lysine, hydroxylysine, and tryptophan and their breakdown inte ... Full text Link to item Cite

A pilot study on using rapamycin-carrying synthetic vaccine particles (SVP) in conjunction with enzyme replacement therapy to induce immune tolerance in Pompe disease.

Journal Article Mol Genet Metab Rep · December 2017 A major obstacle to enzyme replacement therapy (ERT) with recombinant human acid-α-glucosidase (rhGAA) for Pompe disease is the development of high titers of anti-rhGAA antibodies in a subset of patients, which often leads to a loss of treatment efficacy. ... Full text Open Access Link to item Cite

Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.

Journal Article Mol Genet Metab · December 2017 Pompe disease is a metabolic myopathy with a wide spectrum of clinical presentation. The gold-standard diagnostic test is acid alpha-glucosidase assay on skin fibroblasts, muscle or blood. Identification of two GAA pathogenic variants in-trans is confirmat ... Full text Link to item Cite

PRKAG2 mutations presenting in infancy.

Journal Article J Inherit Metab Dis · November 2017 PRKAG2 encodes the γ2 subunit of AMP-activated protein kinase (AMPK), which is an important regulator of cardiac metabolism. Mutations in PRKAG2 cause a cardiac syndrome comprising ventricular hypertrophy, pre-excitation, and progressive conduction-system ... Full text Link to item Cite

Challenges in measuring the effects of pharmacological interventions on cognitive and adaptive functioning in individuals with Down syndrome: A systematic review.

Journal Article Am J Med Genet A · November 2017 We systematically reviewed the measures used in pharmaceutical trials in children/adults with Down syndrome without dementia. Our purpose was to identify developmentally appropriate outcome measures capable of detecting changes in cognitive and adaptive fu ... Full text Open Access Link to item Cite

Pharmacological interventions to improve cognition and adaptive functioning in Down syndrome: Strides to date.

Journal Article Am J Med Genet A · November 2017 Although an increasing number of clinical trials have been developed for cognition in Down syndrome, there has been limited success to date in identifying effective interventions. This review describes the progression from pre-clinical studies with mouse m ... Full text Link to item Cite

Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G "late-onset" GAA variant.

Journal Article Mol Genet Metab · November 2017 OBJECTIVE: Newborn screening (NBS) has led to early diagnosis and early initiation of treatment for infantile onset Pompe Disease (IOPD). However, guidelines for management of late onset Pompe disease (LOPD) via NBS, especially with the IVS c.-32-13T>G are ... Full text Link to item Cite

Response to de Vries et al.

Journal Article Genet Med · November 2017 Full text Link to item Cite

Three cases of multi-generational Pompe disease: Are current practices missing diagnostic and treatment opportunities?

Journal Article Am J Med Genet A · October 2017 Pompe disease (Glycogen storage disease type II, GSDII, or acid maltase deficiency) is an autosomal recessive metabolic myopathy with a broad clinical spectrum, ranging from infantile to late-onset presentations. In 2015, Pompe disease was added as a core ... Full text Link to item Cite

High dose IVIG successfully reduces high rhGAA IgG antibody titers in a CRIM-negative infantile Pompe disease patient.

Journal Article Mol Genet Metab · September 2017 Alglucosidase alfa (rhGAA) has altered the course of an otherwise fatal outcome in classic infantile Pompe disease (IPD), which presents with cardiomyopathy and severe musculoskeletal involvement. However, the response to therapy is determined by several f ... Full text Link to item Cite

Treatment of profound thrombocytopenia in a patient with Gaucher disease type 1: Is there a role for substrate reduction therapy.

Journal Article Mol Genet Metab Rep · September 2017 The availability of three enzyme replacement therapy (ERT) drugs and two substrate reduction therapy (SRT) drugs to treat Gaucher disease provides an opportunity to tailor therapies to a patient's specific clinical concerns. However, there is a gap in the ... Full text Link to item Cite

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.

Journal Article Am J Hematol · September 2017 This study tests the hypothesis that the prevalence of severe clinical manifestations in Gaucher disease type 1 (GD1) patients at the time of treatment initiation has changed since alglucerase/imiglucerase enzyme replacement therapy (ERT) was approved in t ... Full text Link to item Cite

Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa.

Journal Article Mol Genet Metab · September 2017 Hypophosphatasia (HPP) is a rare, inherited, systemic, metabolic disorder caused by autosomal recessive mutations or a single dominant-negative mutation in the gene encoding tissue-nonspecific alkaline phosphatase (TNSALP). The disease is associated with a ... Full text Link to item Cite

Sustained immune tolerance induction in enzyme replacement therapy-treated CRIM-negative patients with infantile Pompe disease.

Journal Article JCI Insight · August 17, 2017 BACKGROUND: Cross-reactive immunological material-negative (CRIM-negative) infantile Pompe disease (IPD) patients develop an immune response against enzyme replacement therapy (ERT) with alglucosidase alfa that nullifies ERT efficacy. Prophylactic immune t ... Full text Link to item Cite

Health-Related Quality of Life in Individuals with Down Syndrome: Results from a Non-Interventional Longitudinal Multi-National Study.

Journal Article Advances in therapy · August 2017 IntroductionTo date, there is little research on health-related quality of life (HRQoL) in Down syndrome (DS), and existing research is variable with regard to reported HRQoL in DS. There are also no HRQoL measures developed specifically to be use ... Full text Cite

Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum.

Journal Article Pediatrics · July 2017 After a Pompe disease diagnosis is confirmed in infants identified through newborn screening (NBS), when and if to start treatment with enzyme replacement therapy (ERT) with alglucosidase alfa must be determined. In classic infantile-onset Pompe disease, E ... Full text Link to item Cite

The Initial Evaluation of Patients After Positive Newborn Screening: Recommended Algorithms Leading to a Confirmed Diagnosis of Pompe Disease.

Journal Article Pediatrics · July 2017 Newborn screening (NBS) for Pompe disease is done through analysis of acid α-glucosidase (GAA) activity in dried blood spots. When GAA levels are below established cutoff values, then second-tier testing is required to confirm or refute a diagnosis of Pomp ... Full text Link to item Cite

Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry study.

Journal Article Am J Med Genet A · June 2017 The goals of this undertaking were to assess the outcomes of thyroid screening tests and adherence to thyroid screening guidelines across five Down syndrome (DS) specialty clinics in various states. Data related to thyroid screening were collected for 663 ... Full text Link to item Cite

Cognitive and academic outcomes in long-term survivors of infantile-onset Pompe disease: A longitudinal follow-up.

Journal Article Mol Genet Metab · June 2017 This study examines the long-term cognitive and academic outcomes of 11 individuals with infantile onset Pompe disease (IOPD) (median age=11years, 1month, range=5years, 6months through 17years of age) treated with enzyme replacement therapy from an early a ... Full text Link to item Cite

Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α.

Journal Article Mol Ther · May 3, 2017 Duvoglustat HCl (AT2220, 1-deoxynojirimycin) is an investigational pharmacological chaperone for the treatment of acid α-glucosidase (GAA) deficiency, which leads to the lysosomal storage disorder Pompe disease, which is characterized by progressive accumu ... Full text Link to item Cite

Antibody-mediated enzyme replacement therapy targeting both lysosomal and cytoplasmic glycogen in Pompe disease.

Journal Article J Mol Med (Berl) · May 2017 UNLABELLED: Pompe disease is characterized by accumulation of both lysosomal and cytoplasmic glycogen primarily in skeletal and cardiac muscles. Mannose-6-phosphate receptor-mediated enzyme replacement therapy (ERT) with recombinant human acid α-glucosidas ... Full text Open Access Link to item Cite

Eliglustat maintains long-term clinical stability in patients with Gaucher disease type 1 stabilized on enzyme therapy.

Journal Article Blood · April 27, 2017 In the phase 3 Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease Who Have Reached Therapeutic Goals With Enzyme Replacement Therapy (ENCORE), at 1 year, eliglustat was noninferior to imiglucerase enzyme therapy in maintaining stab ... Full text Link to item Cite

Systemic Correction of Murine Glycogen Storage Disease Type IV by an AAV-Mediated Gene Therapy.

Journal Article Hum Gene Ther · March 2017 Deficiency of glycogen branching enzyme (GBE) causes glycogen storage disease type IV (GSD IV), which is characterized by the accumulation of a less branched, poorly soluble form of glycogen called polyglucosan (PG) in multiple tissues. This study evaluate ... Full text Open Access Link to item Cite

The emerging phenotype of late-onset Pompe disease: A systematic literature review.

Journal Article Mol Genet Metab · March 2017 BACKGROUND: Pompe disease is an autosomal recessive disorder caused by deficiency of the lysosomal glycogen-hydrolyzing enzyme acid α-glucosidase (GAA). The adult-onset form, late-onset Pompe disease (LOPD), has been characterized by glycogen accumulation ... Full text Open Access Link to item Cite

Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report.

Journal Article JIMD Rep · 2017 Many inborn errors of metabolism can cause cardiomyopathy. Cardiomyopathy associated with glycogen storage includes PRKAG2-associated glycogen storage disease (GSD), Danon disease, infantile-onset Pompe disease (GSD II), GSD III, GSD IV, and phosphofructok ... Full text Link to item Cite

Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for a patient presenting with a PRKAG2 mutation.

Journal Article Mol Genet Metab · 2017 OBJECTIVE: PRKAG2 syndrome, an autosomal dominant disorder, is characterized by severe infantile hypertrophic cardiomyopathy and heart rhythm disturbances to cases with a later presentation and a spectrum of manifestations including cardiac manifestations, ... Full text Open Access Link to item Cite

Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency.

Journal Article JIMD Rep · 2017 UNLABELLED: Glycogen storage disease (GSD) type IX is a rare disease of variable clinical severity affecting primarily the liver tissue. Individuals with liver phosphorylase b kinase (PhK) deficiency (GSD IX) can present with hepatomegaly with elevated ser ... Full text Link to item Cite

PRKAG2 as a mimicker of Pompe disease

Conference Molecular Genetics and Metabolism · January 2017 Full text Cite

Late-onset Pompe disease with atypical presentation: What else is going on?

Conference Molecular Genetics and Metabolism · January 2017 Full text Cite

Beneficial effects of carvedilol with enzyme replacement therapy in Pompe disease

Conference Molecular Genetics and Metabolism · January 2017 Full text Cite

Pulmonary arterial hypertension in glycogen storage disease type I

Journal Article Journal of Inborn Errors of Metabolism and Screening · January 1, 2017 Pulmonary arterial hypertension (PAH) is a rare and highly fatal disease that has been reported in 8 patients with glycogen storage disease type I (GSDI). We describe an additional case of an acute presentation of PAH in a 14-year-old patient with GSDI, wh ... Full text Cite

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

Conference Blood · December 2, 2016 AbstractWe hypothesized that the prevalence of clinical manifestations of Gaucher disease type 1 (GD1) at the time of treatment initiation has changed since alglucerase/imiglucerase enzyme replacement therap ... Full text Cite

Case series: Odontohypophosphatasia or missed diagnosis of childhood/adult-onset hypophosphatasia? - Call for a long-term follow-up of premature loss of primary teeth.

Journal Article Bone Rep · December 2016 INTRODUCTION: Hypophosphatasia, a metabolic bone disease caused by a tissue-nonspecific alkaline phosphatase deficiency, leads to undermineralization of bone and/or teeth, impaired vitamin B6 metabolism, and a spectrum of disease presentation. At the mild ... Full text Link to item Cite

Alglucosidase alfa treatment alleviates liver disease in a mouse model of glycogen storage disease type IV.

Journal Article Mol Genet Metab Rep · December 2016 Patients with progressive hepatic form of GSD IV often die of liver failure in early childhood. We tested the feasibility of using recombinant human acid-α glucosidase (rhGAA) for treating GSD IV. Weekly intravenously injection of rhGAA at 40 mg/kg for 4 w ... Full text Open Access Link to item Cite

Detecting celiac disease in patients with Down syndrome.

Journal Article Am J Med Genet A · December 2016 The main purposes of this undertaking were to determine how often patients with Down syndrome (DS) are screened for celiac disease (CD) across five DS specialty clinics, which symptoms of CD are most often reported to DS specialty providers at these clinic ... Full text Link to item Cite

Burden of disease in adult patients with hypophosphatasia: Results from two patient-reported surveys.

Journal Article Metabolism · October 2016 BACKGROUND: Hypophosphatasia (HPP) is a rare metabolic bone disease caused by loss-of-function mutation(s) in the tissue-nonspecific alkaline (TNSALP) phosphatase gene, which manifests as rickets and/or osteomalacia with systemic complications and affects ... Full text Link to item Cite

Physical therapy management of infants and children with hypophosphatasia.

Journal Article Mol Genet Metab · September 2016 Hypophosphatasia (HPP) is a rare inborn error of metabolism resulting in undermineralization of bone and subsequent skeletal abnormalities. The natural history of HPP is characterized by rickets and osteomalacia, increased propensity for bone fracture, ear ... Full text Link to item Cite

221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.

Journal Article Mol Genet Metab · September 2016 INTRODUCTION: There is limited understanding of relationships between genotype, phenotype and other conditions contributing to health in neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) identified through newborn screening. METHO ... Full text Link to item Cite

Starch Binding Domain-containing Protein 1 Plays a Dominant Role in Glycogen Transport to Lysosomes in Liver.

Journal Article J Biol Chem · August 5, 2016 A small portion of cellular glycogen is transported to and degraded in lysosomes by acid α-glucosidase (GAA) in mammals, but it is unclear why and how glycogen is transported to the lysosomes. Stbd1 has recently been proposed to participate in glycogen tra ... Full text Open Access Link to item Cite

Durable and sustained immune tolerance to ERT in Pompe disease with entrenched immune responses.

Journal Article JCI Insight · July 21, 2016 BACKGROUND: Enzyme replacement therapy (ERT) has prolonged survival and improved clinical outcomes in patients with infantile Pompe disease (IPD), a rapidly progressive neuromuscular disorder. Yet marked interindividual variability in response to ERT, prim ... Full text Link to item Cite

Safety and efficacy of rivastigmine in children with Down syndrome: A double blind placebo controlled trial.

Journal Article Am J Med Genet A · June 2016 Individuals with Down syndrome (DS) have decreased cholinergic function and an uneven profile of cognitive abilities, with more pronounced deficits in learning, memory, and expressive language. Cholinesterase inhibitors may improve cognitive function in ad ... Full text Link to item Cite

New observation of sialuria prompts detection of liver tumor in previously reported patient.

Journal Article Mol Genet Metab · June 2016 UNLABELLED: Sialuria, a rare inborn error of metabolism, was diagnosed in a healthy 12-year-old boy through whole exome sequencing. The patient had experienced mild delays of speech and motor development, as well as persistent hepatomegaly. Identification ... Full text Link to item Cite

A role for plasma cell targeting agents in immune tolerance induction in autoimmune disease and antibody responses to therapeutic proteins.

Journal Article Clin Immunol · April 2016 Antibody responses to life saving therapeutic protein products, such as enzyme replacement therapies (ERT) in the setting of lysosomal storage diseases, have nullified product efficacy and caused clinical deterioration and death despite treatment with immu ... Full text Link to item Cite

Respiratory muscle training (RMT) in late-onset Pompe disease (LOPD): Effects of training and detraining.

Journal Article Mol Genet Metab · February 2016 BACKGROUND: Determine the effects of a 12-week respiratory muscle training (RMT) program in late-onset Pompe disease (LOPD). METHODS: We investigated the effects of 12-weeks of RMT followed by 3-months detraining using a single-subject A-B-A experimental d ... Full text Open Access Link to item Cite

A beta-blocker, propranolol, decreases the efficacy from enzyme replacement therapy in Pompe disease.

Journal Article Mol Genet Metab · February 2016 UNLABELLED: Enzyme replacement therapy (ERT) with recombinant human acid α-glucosidase (rhGAA) fails to completely reverse muscle weakness in Pompe disease. β2-agonists enhanced ERT by increasing receptor-mediated uptake of rhGAA in skeletal muscles. PURPO ... Full text Link to item Cite

Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States.

Journal Article Mol Genet Metab · February 2016 In Gaucher disease, deficient activity of acid β-glucosidase results in accumulation of its substrates, glucosylceramide and glucosylsphingosine, within the lysosomes of cells primarily in the spleen, liver, bone marrow, and occasionally the lung. The mult ... Full text Link to item Cite

Immune response to enzyme replacement therapies in lysosomal storage diseases and the role of immune tolerance induction.

Journal Article Mol Genet Metab · February 2016 The US Food and Drug Administration (FDA) and National Organization for Rare Disease (NORD) convened a public workshop titled "Immune Responses to Enzyme Replacement Therapies: Role of Immune Tolerance Induction" to discuss the impact of anti-drug antibodi ... Full text Link to item Cite

Natural Progression of Canine Glycogen Storage Disease Type IIIa.

Journal Article Comp Med · February 2016 Glycogen storage disease type IIIa (GSD IIIa) is caused by a deficiency of glycogen debranching enzyme activity. Hepatomegaly, muscle degeneration, and hypoglycemia occur in human patients at an early age. Long-term complications include liver cirrhosis, h ... Open Access Link to item Cite

Late onset Pompe disease case review: Severe isolated hypertrophic cardiomyopathy

Conference Molecular Genetics and Metabolism · February 2016 Full text Cite

Enzyme replacement therapy rate escalation in infantile onset Pompe disease

Conference Molecular Genetics and Metabolism · February 2016 Full text Cite

Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing.

Journal Article Orphanet J Rare Dis · January 25, 2016 BACKGROUND: Late-onset Pompe disease (LOPD) is a rare treatable lysosomal storage disorder characterized by progressive lysosomal glycogen accumulation and muscle weakness, with often a limb-girdle pattern. Despite published guidelines, testing for LOPD is ... Full text Link to item Cite

Lower Urinary Tract Symptoms and Incontinence in Children with Pompe Disease.

Journal Article JIMD Rep · 2016 BACKGROUND: Pompe disease (PD) is a disorder of lysosomal glycogen storage. The introduction of enzyme replacement therapy (ERT) has shifted the focus of care from survival to quality of life. The presence of lower urinary tract symptoms (LUTS) and inconti ... Full text Link to item Cite

A Modified Enzymatic Method for Measurement of Glycogen Content in Glycogen Storage Disease Type IV.

Journal Article JIMD Rep · 2016 Deficiency of glycogen branching enzyme in glycogen storage disease type IV (GSD IV) results in accumulation of less-branched and poorly soluble polysaccharides (polyglucosan bodies) in multiple tissues. Standard enzymatic method, when used to quantify gly ... Full text Open Access Link to item Cite

Clinical Laboratory Experience of Blood CRIM Testing in Infantile Pompe Disease.

Journal Article Mol Genet Metab Rep · December 1, 2015 Cross-reactive immunological material (CRIM) status is an important prognostic factor in patients with infantile Pompe disease (IPD) being treated with enzyme replacement therapy. Western blot analysis of cultured skin fibroblast lysates has been the gold ... Full text Link to item Cite

CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy.

Journal Article Genet Med · November 2015 PURPOSE: Enzyme replacement therapy (ERT) with recombinant human acid α-glucosidase (rhGAA) prolongs survival in infantile Pompe disease (IPD). However, the majority of cross-reactive immunologic material (CRIM)-negative (CN) patients have immune responses ... Full text Link to item Cite

Characterization of gait in late onset Pompe disease.

Journal Article Mol Genet Metab · November 2015 The skeletal muscle manifestations of late-onset Pompe disease (LOPD) cause significant gait impairment. However, the specific temporal and spatial characteristics of abnormal gait in LOPD have not been objectively analyzed or described in the literature. ... Full text Link to item Cite

National down syndrome patient database: Insights from the development of a multi-center registry study.

Journal Article Am J Med Genet A · November 2015 The Down Syndrome Study Group (DSSG) was founded in 2012 as a voluntary, collaborative effort with the goal of supporting evidenced-based health care guidelines for individuals with Down syndrome (DS). Since then, 5 DS specialty clinics have collected pros ... Full text Link to item Cite

Immune Tolerance Strategies in Siblings with Infantile Pompe Disease-Advantages for a Preemptive Approach to High-Sustained Antibody Titers.

Journal Article Mol Genet Metab Rep · September 1, 2015 Enzyme replacement therapy (ERT) has led to a significant improvement in the clinical course of patients with infantile Pompe disease (IPD), an autosomal recessive glycogen storage disorder characterized by the deficiency in lysosomal acid α-glucosidase. A ... Full text Link to item Cite

Down Syndrome Disintegrative Disorder: New-Onset Autistic Regression, Dementia, and Insomnia in Older Children and Adolescents With Down Syndrome.

Journal Article J Child Neurol · August 2015 Over a 10-year period in a Down syndrome Clinic, 11 children and adolescents were encountered with a history of new-onset (8) or worsening (3) autistic characteristics. Ten of the 11 (91%) had cognitive decline to a dementia-like state and 9 of the 11 (82% ... Full text Link to item Cite

Successful combined liver/kidney transplantation from a donor with Pompe disease.

Journal Article Mol Genet Metab · August 2015 Pompe disease results from inherited deficiency of the enzyme acid alpha-glucosidase resulting in lysosomal accumulation of glycogen primarily in skeletal muscle. Reported is the first case in which a donor with late onset Pompe disease (LOPD) was successf ... Full text Link to item Cite

Correlation between quantitative whole-body muscle magnetic resonance imaging and clinical muscle weakness in Pompe disease.

Journal Article Muscle Nerve · May 2015 INTRODUCTION: Previous examination of whole-body muscle involvement in Pompe disease has been limited to physical examination and/or qualitative magnetic resonance imaging (MRI). In this study we assess the feasibility of quantitative proton-density fat-fr ... Full text Open Access Link to item Cite

Quantitative assessment of lingual strength in late-onset Pompe disease.

Journal Article Muscle Nerve · May 2015 INTRODUCTION: Skeletal muscle is common in late-onset Pompe disease (LOPD). Recent data implicate common bulbar muscle involvement (i.e., the tongue). METHODS: We used quantitative assessment of lingual strength to retrospectively determine the frequency a ... Full text Open Access Link to item Cite

Small-fiber neuropathy in pompe disease: first reported cases and prospective screening of a clinic cohort.

Journal Article Am J Case Rep · April 3, 2015 BACKGROUND: Prior autopsy reports demonstrate glycogen deposition in Schwann cells of the peripheral nerves in patients with infantile and late-onset Pompe disease (LOPD), but little is known about associated clinical features. CASE REPORT: Here, we report ... Full text Open Access Link to item Cite

Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease.

Journal Article Neuromuscul Disord · April 2015 Emerging phenotypes in long-term survivors with Pompe disease on standard enzyme replacement therapy (ERT) (alglucosidase alfa 20 mg/kg/2 weeks) can include patients with worsening motor function. Whether higher doses of ERT improve skeletal function in th ... Full text Link to item Cite

Premature pubarche in children with Pompe disease.

Journal Article J Pediatr · April 2015 Pompe disease (PD), or glycogen storage disease type II, results from deficiency of acid α-glucosidase. Patients with infantile-onset PD die by early childhood if untreated. Patient survival has improved with enzyme replacement therapy. We report a case se ... Full text Link to item Cite

Longitudinal polysomnographic findings in infantile Pompe disease.

Journal Article Am J Med Genet A · April 2015 Infantile Pompe disease is a rare, metabolic disorder due to deficiency of the enzyme acid α-glucosidase that degrades lysosomal glycogen. The deficiency leads to multisystem dysfunction. Neuromuscular weakness due to metabolic myopathy is present, which p ... Full text Link to item Cite

A hypophosphatasia case series: Odontohypophosphatasia or childhood/adult form?

Conference MOLECULAR GENETICS AND METABOLISM · March 1, 2015 Link to item Cite

Further expanding the phenotype of treated infantile onset Pompe disease

Conference Molecular Genetics and Metabolism · February 2015 Full text Cite

Characterization of gait in late onset Pompe disease

Conference Molecular Genetics and Metabolism · February 2015 Full text Cite

The Pompe Registry: 10years of data

Conference Molecular Genetics and Metabolism · February 2015 Full text Cite

Pompe disease results in a Golgi-based glycosylation deficit in human induced pluripotent stem cell-derived cardiomyocytes.

Journal Article J Biol Chem · January 30, 2015 Infantile-onset Pompe disease is an autosomal recessive disorder caused by the complete loss of lysosomal glycogen-hydrolyzing enzyme acid α-glucosidase (GAA) activity, which results in lysosomal glycogen accumulation and prominent cardiac and skeletal mus ... Full text Link to item Cite

Neurogenic bladder dysfunction presenting as urinary retention in neuronopathic Gaucher disease.

Journal Article JIMD Rep · 2015 Neuronopathic Gaucher disease can present as a continuum of clinical findings, including somatic symptoms of anemia, thrombocytopenia, hepatosplenomegaly, and bone disease as well as neurologic sequelae. There is a spectrum of neurologic symptoms ranging f ... Full text Link to item Cite

Expanding our understanding of lower urinary tract symptoms and incontinence in adults with pompe disease.

Journal Article JIMD Rep · 2015 OBJECTIVE: To study the prevalence of lower urinary tract symptoms (LUTS) and incontinence in late-onset Pompe disease (LOPD) Methods: Adult LOPD patients seen at the Duke Pompe Clinic were prospectively recruited and asked to complete validated questionna ... Full text Link to item Cite

Postmortem Findings and Clinical Correlates in Individuals with Infantile-Onset Pompe Disease.

Journal Article JIMD Rep · 2015 Pompe disease (OMIM 232300), a glycogen storage disorder caused by deficiency in the lysosomal enzyme acid alpha-glucosidase (EC 3.2.1.20), results in weakness and cardiomyopathy in infants affected with the classic form. Although the primary disease manif ... Full text Link to item Cite

Assessment of Cognitive Scales to Examine Memory, Executive Function and Language in Individuals with Down Syndrome: Implications of a 6-month Observational Study.

Journal Article Front Behav Neurosci · 2015 Down syndrome (DS) is the most commonly identifiable genetic form of intellectual disability. Individuals with DS have considerable deficits in intellectual functioning (i.e., low intellectual quotient, delayed learning and/or impaired language development ... Full text Link to item Cite

Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn Screening.

Chapter · 2015 PURPOSE: The urinary glucose tetrasaccharide, Glcα1-6Glcα1-4Glcα1-4Glc (Glc4), is a biomarker of glycogen accumulation and tissue damage and is elevated in patients with Pompe disease. We report baseline urinary Glc4 concentrations for patients with classi ... Full text Link to item Cite

Challenges of enzyme replacement therapy: Poor tissue distribution in lysosomal diseases using pompe disease as a model

Journal Article AAPS Advances in the Pharmaceutical Sciences Series · January 1, 2015 Full text Cite

Disorders of Carbohydrate Metabolism

Chapter · December 15, 2014 © 2014 Elsevier Inc. All rights reserved.Inborn errors of carbohydrate metabolism covered in this chapter include disaccharidase deficiencies, disorders of monosaccharide metabolism, glycogen storage diseases, and gluconeogenic disorders. This chapter focu ... Full text Cite

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics.

Journal Article Genet Med · November 2014 PURPOSE: Glycogen storage disease type I (GSD I) is a rare disease of variable clinical severity that primarily affects the liver and kidney. It is caused by deficient activity of the glucose 6-phosphatase enzyme (GSD Ia) or a deficiency in the microsomal ... Full text Link to item Cite

Abstract 518: Identification of differentially expressed microRNAs in human hepatocellular adenoma associated with type I glycogen storage disease: a potential utility as biomarkers

Conference Cancer Research · October 1, 2014 AbstractBackground: It is known that malignant transformation to hepatocellular carcinoma (HCC) occurs at a higher frequency in hepatocellular adenoma (HCA) from type I glycogen storage disease (GSD I) compa ... Full text Cite

New therapeutic approaches for Pompe disease: enzyme replacement therapy and beyond.

Journal Article Pediatr Endocrinol Rev · September 2014 Pompe disease is an autosomal recessive disorder of glycogen metabolism caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). Prior to 2006, therapy was palliative. Severely affected infants with Pompe succumbed to cardiomyopathy or ... Link to item Cite

Identification of differentially expressed microRNAs in human hepatocellular adenoma associated with type I glycogen storage disease: a potential utility as biomarkers.

Journal Article J Gastroenterol · August 2014 BACKGROUND: It is known that malignant transformation to hepatocellular carcinoma (HCC) occurs at a higher frequency in hepatocellular adenoma (HCA) from type I glycogen storage disease (GSD I) compared to HCA from other etiologies. In this study, we aimed ... Full text Link to item Cite

Correction of glycogen storage disease type III with rapamycin in a canine model.

Journal Article J Mol Med (Berl) · June 2014 UNLABELLED: Recently, we reported that progression of liver fibrosis and skeletal myopathy caused by extensive accumulation of cytoplasmic glycogen at advanced age is the major feature of a canine model of glycogen storage disease (GSD) IIIa. Here, we aim ... Full text Open Access Link to item Cite

Adjunctive albuterol enhances the response to enzyme replacement therapy in late-onset Pompe disease.

Journal Article FASEB J · May 2014 Effective dosages for enzyme replacement therapy (ERT) in Pompe disease are much higher than for other lysosomal storage disorders, which has been attributed to low cation-independent mannose-6-phosphate receptor (CI-MPR) in skeletal muscle. We have previo ... Full text Open Access Link to item Cite

Liver transplantation for pediatric metabolic disease.

Journal Article Mol Genet Metab · April 2014 Liver transplantation (LTx) was initially developed as a therapy for liver diseases known to be associated with a high risk of near-term mortality but is based upon a different set of paradigms for inborn metabolic diseases. As overall outcomes for the pro ... Full text Link to item Cite

Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.

Journal Article Mol Genet Metab · March 2014 Liver phosphorylase b kinase (PhK) deficiency (glycogen storage disease type IX), one of the most common causes of glycogen storage disease, is caused by mutations in the PHKA2, PHKB, and PHKG2 genes. Presenting symptoms include hepatomegaly, ketotic hypog ... Full text Link to item Cite

Outcome of pregnancy in Pompe disease with and without enzyme replacement therapy

Conference Molecular Genetics and Metabolism · February 2014 Full text Cite

The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients.

Journal Article Acta Neuropathol Commun · January 2, 2014 BACKGROUND: Pompe disease, an inherited deficiency of lysosomal acid alpha-glucosidase (GAA), is a metabolic myopathy with heterogeneous clinical presentations. Late-onset Pompe disease (LOPD) is a debilitating progressive muscle disorder that can occur an ... Full text Link to item Cite

Ocular and histologic findings in a series of children with infantile pompe disease treated with enzyme replacement therapy.

Journal Article J Pediatr Ophthalmol Strabismus · 2014 PURPOSE: To report the ophthalmologic and histologic findings in a series of children with infantile Pompe disease treated with enzyme replacement therapy (ERT). METHODS: Records of children with infantile Pompe disease treated with ERT who had at least on ... Full text Link to item Cite

Effects of respiratory muscle training (RMT) in children with infantile-onset Pompe disease and respiratory muscle weakness.

Journal Article J Pediatr Rehabil Med · 2014 PURPOSE: Respiratory muscle weakness is a primary therapeutic challenge for patients with infantile Pompe disease. We previously described the clinical implementation of a respiratory muscle training (RMT) regimen in two adults with late-onset Pompe diseas ... Full text Open Access Link to item Cite

Non-depleting anti-CD4 monoclonal antibody induces immune tolerance to ERT in a murine model of Pompe disease.

Journal Article Mol Genet Metab Rep · 2014 Approximately 35-40% of patients with classic infantile Pompe disease treated with enzyme replacement therapy (ERT) develop high, sustained antibody titers against the therapeutic enzyme alglucosidase alfa, which abrogates the treatment efficacy. Induction ... Full text Open Access Link to item Cite

Glycogen Storage Diseases

Chapter · January 1, 2014 Glycogen is the principal storage form of carbohydrate in animal cells and is present virtually in every tissue of the body. Glycogen storage diseases (GSDs) (glycogenoses) are inborn metabolic disorders characterized by defects in enzymes or transport pro ... Full text Cite

Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry.

Journal Article Mol Genet Metab · 2014 Pompe disease is a rare, autosomal recessive disorder characterized by deficiency of lysosomal acid alpha-glucosidase and accumulation of lysosomal glycogen in many tissues. The variable clinical manifestations, broad phenotypic spectrum, and overlap of si ... Full text Link to item Cite

Polysomnographic findings in infantile Pompe disease.

Journal Article Am J Med Genet A · December 2013 Infantile Pompe disease is a rare, autosomal recessive disorder due to deficiency of the enzyme acid α-glucosidase that degrades lysosomal glycogen. Clinical features of diffuse hypotonia, cardiomyopathy, and weakness are present within the first days to m ... Full text Link to item Cite

Menorrhagia in patients with type I glycogen storage disease.

Journal Article Obstet Gynecol · December 2013 OBJECTIVE: To evaluate menorrhagia in a cohort of women with glycogen storage disease type I because it appears to be an under-recognized problem in females of reproductive age. METHODS: A retrospective chart review was performed on 13 menstruating patient ... Full text Link to item Cite

Neutropenia In Glycogen Storage Disease 1b (GSD1b)

Conference Blood · November 15, 2013 AbstractHypoglycemia, neutropenia, enterocolitis and recurrent infections are common manifestations of glycogen storage disease 1b (GSD1b). GSD1b is a rare genetic disorder caused by mutations in G6PT1, the ... Full text Cite

Timing of diagnosis of patients with Pompe disease: data from the Pompe registry.

Journal Article Am J Med Genet A · October 2013 Diagnostic delays in Pompe disease are common. The diagnostic gap (the time from the onset of symptoms to the diagnosis of Pompe disease) and factors associated with diagnostic delays were examined among Pompe Registry patients in three onset categories: G ... Full text Link to item Cite

Generating color-coded anatomic muscle maps for correlation of quantitative magnetic resonance imaging analysis with clinical examination in neuromuscular disorders.

Journal Article Muscle Nerve · August 2013 INTRODUCTION: Fatty infiltration of muscles may be seen in many neuromuscular disorders, including glycogen storage disease (GSD), muscular dystrophy, and amyotrophic lateral sclerosis. Recording pathologic involvement of musculature in these patients is c ... Full text Link to item Cite

Corrigendum

Journal Article American Journal of Hematology · July 2013 Full text Cite

Stbd1 is highly elevated in skeletal muscle of Pompe disease mice but suppression of its expression does not affect lysosomal glycogen accumulation.

Journal Article Mol Genet Metab · July 2013 Previous studies strongly suggest that starch binding domain containing protein 1 (Stbd1) plays an important role in intracellular glycogen trafficking into lysosomes. We report here that Stbd1 expression is markedly increased in skeletal muscles but not i ... Full text Open Access Link to item Cite

Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy.

Journal Article Orphanet J Rare Dis · June 20, 2013 BACKGROUND: Pompe disease is an autosomal recessive metabolic neuromuscular disorder caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). It has long been believed that the underlying pathology leading to tissue damage is caused by ... Full text Open Access Link to item Cite

Pathogenesis of growth failure and partial reversal with gene therapy in murine and canine Glycogen Storage Disease type Ia.

Journal Article Mol Genet Metab · June 2013 Glycogen Storage Disease type Ia (GSD-Ia) in humans frequently causes delayed bone maturation, decrease in final adult height, and decreased growth velocity. This study evaluates the pathogenesis of growth failure and the effect of gene therapy on growth i ... Full text Open Access Link to item Cite

Oropharyngeal dysphagia may occur in late-onset Pompe disease, implicating bulbar muscle involvement.

Journal Article Neuromuscul Disord · April 2013 Late-onset Pompe disease (presenting after 12 months of age) often presents with limb-girdle and respiratory weakness, but oropharyngeal dysphagia has not been reported previously. A retrospective review of all late-onset Pompe disease patients evaluated i ... Full text Open Access Link to item Cite

Velaglucerase alfa enzyme replacement therapy compared with imiglucerase in patients with Gaucher disease.

Journal Article Am J Hematol · March 2013 Enzyme replacement therapy for Gaucher disease (GD) has been available since 1991. This study compared the efficacy and safety of velaglucerase alfa with imiglucerase, the previous standard of care. A 9-month, global, randomized, double-blind, non-inferior ... Full text Link to item Cite

Low anal sphincter tone in infantile-onset Pompe Disease: an emerging clinical issue in enzyme replacement therapy patients requiring special attention.

Journal Article Mol Genet Metab · February 2013 Pompe Disease (PD) is a lysosomal storage disease caused by acid α-glucosidase deficiency. The infantile form typically results in death in the first year of life. Patient survival has improved with enzyme replacement therapy (ERT), but new complications a ... Full text Link to item Cite

Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III.

Journal Article Mol Genet Metab · February 2013 We investigated the feasibility of using recombinant human acid-α glucosidase (rhGAA, Alglucosidase alfa), an FDA approved therapy for Pompe disease, as a treatment approach for glycogen storage disease type III (GSD III). An in vitro disease model was est ... Full text Open Access Link to item Cite

Bortezomib in the rapid reduction of high sustained antibody titers in disorders treated with therapeutic protein: lessons learned from Pompe disease.

Journal Article Genet Med · February 2013 PURPOSE: High sustained antibody titers complicate many disorders treated with a therapeutic protein, including those treated with enzyme replacement therapy, such as Pompe disease. Although enzyme replacement therapy with alglucosidase alfa (Myozyme) in P ... Full text Link to item Cite

Dysregulation of multiple facets of glycogen metabolism in a murine model of Pompe disease.

Journal Article PLoS One · 2013 Pompe disease, also known as glycogen storage disease (GSD) type II, is caused by deficiency of lysosomal acid α-glucosidase (GAA). The resulting glycogen accumulation causes a spectrum of disease severity ranging from a rapidly progressive course that is ... Full text Link to item Cite

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.

Journal Article PLoS One · 2013 OBJECTIVE: Although enzyme replacement therapy (ERT) is a highly effective therapy, CRIM-negative (CN) infantile Pompe disease (IPD) patients typically mount a strong immune response which abrogates the efficacy of ERT, resulting in clinical decline and de ... Full text Open Access Link to item Cite

Disorders of Carbohydrate Metabolism

Journal Article · January 1, 2013 Full text Cite

Systemic oxidative stress, as measured by urinary allantoin and F(2)-isoprostanes, is not increased in Down syndrome.

Journal Article Ann Epidemiol · December 2012 PURPOSE: Oxidative stress has been implicated in Down syndrome (DS) pathology. This study compares DS individuals and controls on their urinary levels of allantoin and 2,3-dinor-iPF2α-III; these biomarkers have been previously validated in a clinical model ... Full text Link to item Cite

Characterization of a canine model of glycogen storage disease type IIIa.

Journal Article Dis Model Mech · November 2012 Glycogen storage disease type IIIa (GSD IIIa) is an autosomal recessive disease caused by deficiency of glycogen debranching enzyme (GDE) in liver and muscle. The disorder is clinically heterogeneous and progressive, and there is no effective treatment. Pr ... Full text Open Access Link to item Cite

Bulbar muscle weakness and fatty lingual infiltration in glycogen storage disorder type IIIa.

Journal Article Mol Genet Metab · November 2012 Glycogen storage disorder type III (GSD III) is a rare autosomal recessive disorder resulting from a deficiency of glycogen debranching enzyme, critical in cytosolic glycogen degradation. GSD IIIa, the most common form of GSD III, primarily affects the liv ... Full text Open Access Link to item Cite

Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa.

Journal Article Mol Genet Metab · November 2012 OBJECTIVE: Late-onset Pompe disease is a progressive, debilitating, and often fatal neuromuscular disorder resulting from the deficiency of a lysosomal enzyme, acid α-glucosidase. This extension study was conducted to determine the durability of the effica ... Full text Link to item Cite

The emerging phenotype of long-term survivors with infantile Pompe disease.

Journal Article Genet Med · September 2012 PURPOSE: Enzyme replacement therapy with alglucosidase alfa for infantile Pompe disease has improved survival creating new management challenges. We describe an emerging phenotype in a retrospective review of long-term survivors. METHODS: Inclusion criteri ... Full text Open Access Link to item Cite

Clinical observation of patients with Fabry disease after switching from agalsidase beta (Fabrazyme) to agalsidase alfa (Replagal).

Journal Article Genet Med · September 2012 PURPOSE: Fabry disease is a rare, X-linked, inherited lysosomal storage disorder that can be treated with the enzymes agalsidasealfa (Replagal) and agalsidase beta (Fabrazyme). Currently, there is a global shortage of agalsidase beta, and this has increase ... Full text Link to item Cite

To the Editor

Journal Article Molecular Genetics and Metabolism · September 1, 2012 Full text Cite

Characterization and pathogenesis of anemia in glycogen storage disease type Ia and Ib.

Journal Article Genet Med · September 2012 PURPOSE: The aim of this study was to characterize the frequency and causes of anemia in glycogen storage disease type I. METHODS: Hematologic data and iron studies were available from 202 subjects (163 with glycogen storage disease Ia and 39 with glycogen ... Full text Link to item Cite

Autopsy findings in late-onset Pompe disease: a case report and systematic review of the literature.

Journal Article Mol Genet Metab · August 2012 BACKGROUND: Late-onset Pompe disease (LOPD) is a rare cause of declining proximal muscle strength and respiratory function that can also affect other organ systems. The development of enzyme replacement therapy has made it one of the few inherited muscle d ... Full text Link to item Cite

The impact of antibodies in late-onset Pompe disease: a case series and literature review.

Journal Article Mol Genet Metab · July 2012 Pompe disease (glycogen storage disease type II, GSD II) is an autosomal recessive disease caused by a deficiency of acid α-glucosidase (GAA), leading to lysosomal glycogen accumulation in various tissues, most notably cardiac, skeletal and smooth muscle. ... Full text Link to item Cite

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.

Journal Article Mol Genet Metab · April 2012 With the advent of enzyme replacement therapy (ERT) with alglucosidase alfa (rhGAA, Myozyme®) for Pompe disease, the clinical course of the disease has changed. We have previously described the poor outcome in cross reactive immunologic material (CRIM)-neg ... Full text Link to item Cite

A canine model of glycogen storage disease type III

Conference MOLECULAR GENETICS AND METABOLISM · March 1, 2012 Link to item Cite

Clinical challenges diagnosing an infant with hypertrophic cardiomyopathy

Conference MOLECULAR GENETICS AND METABOLISM · March 1, 2012 Link to item Cite

Rapamycin is a potential therapy for glycogen storage disease type III

Conference MOLECULAR GENETICS AND METABOLISM · March 1, 2012 Link to item Cite

Early cognitive development in children with infantile Pompe disease.

Journal Article Mol Genet Metab · March 2012 This report describes the cognitive development of 17 children with infantile Pompe disease who participated in a 52-week clinical trial of enzyme replacement therapy (ERT) via biweekly infusion of Myozyme® (alglucosidase alfa). Subjects were six months of ... Full text Open Access Link to item Cite

Infantile Pompe disease on ERT: update on clinical presentation, musculoskeletal management, and exercise considerations.

Journal Article Am J Med Genet C Semin Med Genet · February 15, 2012 Enzyme replacement therapy (ERT) with alglucosidase alpha, approved by the FDA in 2006, has expanded possibilities for individuals with Pompe disease (glycogen storage disease type II, GSDII, or acid maltase deficiency). Children with infantile Pompe disea ... Full text Link to item Cite

Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience.

Journal Article Am J Med Genet C Semin Med Genet · February 15, 2012 Enzyme replacement therapy (ERT) for Pompe disease using recombinant acid alpha-glucosidase (rhGAA) has resulted in increased survival although the clinical response is variable. Cross-reactive immunological material (CRIM)-negative status has been recogni ... Full text Link to item Cite

Assessing disease severity in Pompe disease: the roles of a urinary glucose tetrasaccharide biomarker and imaging techniques.

Journal Article Am J Med Genet C Semin Med Genet · February 15, 2012 Defining disease severity in patients with Pompe disease is important for prognosis and monitoring the response to therapies. Current approaches include qualitative and quantitative assessments of the disease burden, and clinical measures of the impact of ... Full text Link to item Cite

The new era of Pompe disease: advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management.

Journal Article Am J Med Genet C Semin Med Genet · February 15, 2012 Pompe disease is an autosomal recessive neuromuscular disorder marked by progressive muscle weakness due to lysosomal buildup of glycogen. Presentation is described as a spectrum, varying by age of onset, organ involvement, and degree of myopathy. Given th ... Full text Link to item Cite

Cognitive and adaptive functioning of children with infantile Pompe disease treated with enzyme replacement therapy: long-term follow-up.

Journal Article Am J Med Genet C Semin Med Genet · February 15, 2012 This report documents the long-term cognitive and adaptive outcome of children with infantile Pompe disease. Specifically, we describe the cognitive and adaptive functioning of seven children with classic infantile Pompe disease and two children with atypi ... Full text Link to item Cite

Infantile Pompe disease on ERTuUpdate on clinical presentation, musculoskeletal management, and exercise considerations

Journal Article AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS · February 15, 2012 Full text Link to item Cite

Cognitive and adaptive functioning of children with infantile Pompe disease treated with enzyme replacement therapy: Long-term follow-up

Journal Article AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS · February 15, 2012 Full text Link to item Cite

The new era of Pompe disease: Advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management

Journal Article AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS · February 15, 2012 Full text Link to item Cite

β2 Agonists enhance the efficacy of simultaneous enzyme replacement therapy in murine Pompe disease.

Journal Article Mol Genet Metab · February 2012 Enzyme replacement therapy (ERT) with recombinant human acid α-glucosidase (rhGAA) has improved clinical outcomes in patients with Pompe disease; however, the response of skeletal muscle and the central nervous system to ERT has been attenuated. The poor r ... Full text Link to item Cite

Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease.

Journal Article Genet Med · January 2012 PURPOSE: Infantile Pompe disease resulting from a deficiency of lysosomal acid α-glucosidase (GAA) requires enzyme replacement therapy (ERT) with recombinant human GAA (rhGAA). Cross-reactive immunologic material negative (CRIM-negative) Pompe patients dev ... Full text Link to item Cite

Cardiac Pathology in Glycogen Storage Disease Type III.

Journal Article JIMD Rep · 2012 PURPOSE: To investigate the distribution and clinical impact of glycogen accumulation on heart structure and function in individuals with GSD III. METHODS: We examined cardiac tissue and the clinical records of three individuals with GSD IIIa who died or u ... Full text Link to item Cite

Expanding the phenotype of late-onset Pompe disease: tongue weakness: a new clinical observation.

Journal Article Muscle Nerve · December 2011 INTRODUCTION: Following the clinical observation of lingual weakness in 2 patients with late-onset Pompe disease (LOPD), tongue strength was assessed in 19 consecutive patients to determine the frequency and severity of this neurological sign. METHODS: Lin ... Full text Open Access Link to item Cite

Atypical immunologic response in a patient with CRIM-negative Pompe disease.

Journal Article Mol Genet Metab · December 2011 We report the clinical course of a patient with severe infantile onset Pompe disease [cross-reactive immunologic material (CRIM) negative, R854X/R854X] who was diagnosed prenatally and received standard dosing of alglucosidase alfa (Myozyme®) enzyme replac ... Full text Link to item Cite

The prevalence and impact of scoliosis in Pompe disease: lessons learned from the Pompe Registry.

Journal Article Mol Genet Metab · December 2011 Pompe disease is a rare, autosomal recessive, progressively debilitating, and often fatal neuromuscular disorder. While scoliosis is common in many other neuromuscular disorders, there is little information on its prevalence and impact in Pompe disease. To ... Full text Link to item Cite

Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency.

Journal Article Mol Genet Metab · December 2011 We found that the missense mutation p.Pro1205Leu in the PHKA2 gene is a common cause of hepatic phosphorylase-kinase deficiency in Dutch patients, suggesting a founder-effect. Most patients presented with isolated growth delay and diarrhea, prior to the oc ... Full text Link to item Cite

The clinical and electrodiagnostic characteristics of Pompe disease with post-enzyme replacement therapy findings.

Journal Article Clin Neurophysiol · November 2011 OBJECTIVE: Pompe disease is a neuromuscular disorder that was progressive and fatal prior to enzyme replacement therapy (ERT). The advent of treatment has made early recognition imperative. Electrodiagnostic (EDx) studies represent a valuable diagnostic to ... Full text Link to item Cite

Increased inspiratory and expiratory muscle strength following respiratory muscle strength training (RMST) in two patients with late-onset Pompe disease.

Journal Article Mol Genet Metab · November 2011 Respiratory muscle strength training (RMST) is an exercise-based intervention which targets respiratory muscle weakness. We implemented RMST in two patients with late-onset Pompe disease (LOPD), both who had received long-term enzyme replacement therapy an ... Full text Open Access Link to item Cite

Recombinant macrophage targeted enzyme replacement therapy for Gaucher disease in India.

Journal Article Indian Pediatr · October 2011 OBJECTIVE: Gaucher disease in India has been reported only in a few case reports from India. The aim of the study was to assess the response to enzyme replacement therapy in Indian patients with Gaucher disease. DESIGN: Retrospective analysis of patients r ... Full text Link to item Cite

The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease.

Journal Article Genet Med · August 2011 PURPOSE: Enzyme replacement therapy with rhGAA (Myozyme®) has lead to improved survival, which is largely attributable to improvements in cardiomyopathy and skeletal muscle function. However, crossreactive immunologic material-negative patients have a poor ... Full text Link to item Cite

Expanding the clinical spectrum of late-onset Pompe disease: dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered.

Journal Article Mol Genet Metab · August 2011 PURPOSE: Cerebro-vascular arteriopathy has been reported in late-onset Pompe disease (LOPD). Evidence of increased aortic stiffness in some patients and smooth muscle involvement in LOPD raises the possibility of aortic involvement. Our aim was to determin ... Full text Link to item Cite

Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy.

Journal Article Genet Med · July 2011 PURPOSE: We evaluated the prevalence of cardiovascular abnormalities and the efficacy and safety of enzyme replacement therapy in patients with late-onset Pompe disease. METHODS: Ninety patients were randomized 2:1 to enzyme replacement therapy or placebo ... Full text Link to item Cite

The Pompe Registry: Baseline Data From the First Five Years

Conference Clinical Therapeutics · June 1, 2011 Full text Cite

Pompe disease: design, methodology, and early findings from the Pompe Registry.

Journal Article Mol Genet Metab · May 2011 Pompe disease is an autosomal recessive, progressive, debilitating, and often fatal neuromuscular disorder caused by deficiency of lysosomal acid α-glucosidase (GAA). It is characterized by the accumulation of glycogen in muscle tissue that leads to progre ... Full text Link to item Cite

Molecular analysis and protein processing in late-onset Pompe disease patients with low levels of acid α-glucosidase activity.

Journal Article Muscle Nerve · May 2011 INTRODUCTION: Pompe disease (glycogen storage disease type II, acid maltase deficiency) is caused by deficiency of lysosomal acid α-glucosidase (GAA). A few late-onset patients have been reported with skin fibroblast GAA activity levels of <2%. METHODS: We ... Full text Link to item Cite

The heterogeneity of pompe disease: Early data on genotype from the Pompe registry

Conference Molecular Genetics and Metabolism · February 2011 Full text Cite

The pompe registry: Baseline data from the first five years

Conference Molecular Genetics and Metabolism · February 2011 Full text Cite

The clinical phenotype of Long-term infantile Pompe disease survivors

Conference Molecular Genetics and Metabolism · February 2011 Full text Cite

Follow-up of a child with pyruvate dehydrogenase deficiency on a less restrictive ketogenic diet.

Journal Article Mol Genet Metab · February 2011 A male child with X-linked pyruvate dehydrogenase deficiency presented with severe neonatal lactic acidosis. Poor compliance following initiation of the ketogenic diet justified modification to a less restrictive form which improved compliance. One year af ... Full text Link to item Cite

An individually, modified approach to desensitize infants and young children with Pompe disease, and significant reactions to alglucosidase alfa infusions.

Journal Article Mol Genet Metab · 2011 PURPOSE: Pompe disease (PD) is a progressive metabolic myopathy for which the only available treatment is alglucosidase alfa (Myozyme®). Enzyme replacement therapy (ERT) has improved ventilator-free survival, and cardiac and motor functions in patients wit ... Full text Link to item Cite

Prevalence of iron deficiency in children with Down syndrome.

Journal Article J Pediatr · December 2010 OBJECTIVES: To determine the prevalence of iron deficiency (ID) and iron deficiency anemia (IDA) in a sample of children with Down syndrome (DS) and to evaluate the effect of macrocytosis on the diagnosis of ID/IDA in these children. STUDY DESIGN: Children ... Full text Link to item Cite

Oropharyngeal dysphagia in infants and children with infantile Pompe disease.

Journal Article Dysphagia · December 2010 Pompe disease is a rare genetic progressive neuromuscular disorder. The most severe form, infantile Pompe disease, has historically resulted in early mortality, most commonly due to cardiorespiratory failure. Treatment with enzyme replacement therapy (ERT) ... Full text Open Access Link to item Cite

Donepezil for treatment of cognitive dysfunction in children with Down syndrome aged 10-17.

Journal Article Am J Med Genet A · December 2010 The objective of this 10-week, randomized, double-blind, placebo-controlled multicenter study was to assess the efficacy and safety of donepezil for the treatment of cognitive dysfunction exhibited by children with Down syndrome (DS). Intervention comprise ... Full text Link to item Cite

Safety and efficacy of rivastigmine in adolescents with Down syndrome: long-term follow-up.

Journal Article J Child Adolesc Psychopharmacol · December 2010 Following the completion of a 20-week, open-label study of the safety and efficacy of liquid rivastigmine for adolescents with Down syndrome, 5 of the 10 adolescents in the clinical trial continued long-term rivastigmine therapy and 5 did not. After an ave ... Full text Open Access Link to item Cite

Use of cardiac magnetic resonance imaging to evaluate cardiac structure, function and fibrosis in children with infantile Pompe disease on enzyme replacement therapy.

Journal Article Mol Genet Metab · December 2010 BACKGROUND: Pompe disease (acid α-glucosidase deficiency) is one of several lysosomal storage diseases amenable to treatment with enzyme replacement therapy (ERT). While echocardiography (echo) has been the standard method to evaluate the cardiac response ... Full text Link to item Cite

The accuracy of photoscreening at detecting treatable ocular conditions in children with Down syndrome.

Journal Article J AAPOS · December 2010 BACKGROUND: Children with Down syndrome (DS) have an increased prevalence of ocular disorders, including amblyopia, strabismus, and refractive error. Health maintenance guidelines from the Down Syndrome Medical Interest Group recommend ophthalmologic exami ... Full text Link to item Cite

Echocardiographic manifestations of Glycogen Storage Disease III: increase in wall thickness and left ventricular mass over time.

Journal Article Genet Med · July 2010 PURPOSE: Glycogen Storage Disease Type III, glycogen debranching enzyme deficiency, causes accumulation of glycogen in liver, skeletal, and cardiac muscle. Some patients develop increased left ventricular thickness by echocardiography, but the rate of incr ... Full text Link to item Cite

The electrodiagnostic characteristics of Glycogen Storage Disease Type III.

Journal Article Genet Med · July 2010 PURPOSE: Glycogen Storage Disease Type III, also known as debrancher deficiency or Cori disease, is an autosomal recessive disorder recognized for both its hepatic and muscle manifestations. The neuromuscular manifestations of Glycogen Storage Disease Type ... Full text Link to item Cite

Glycogen storage disease type III diagnosis and management guidelines.

Journal Article Genet Med · July 2010 PURPOSE: Glycogen storage disease type III is a rare disease of variable clinical severity affecting primarily the liver, heart, and skeletal muscle. It is caused by deficient activity of glycogen debranching enzyme, which is a key enzyme in glycogen degra ... Full text Link to item Cite

Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III.

Journal Article Genet Med · July 2010 PURPOSE: Glycogen Storage Disease Type III (limit dextrinosis; Cori or Forbes disease) is an autosomal recessive disorder of glycogen metabolism caused by deficient activity of glycogen debranching enzyme in liver and muscle (Glycogen Storage Disease Type ... Full text Link to item Cite

A randomized study of alglucosidase alfa in late-onset Pompe's disease.

Journal Article N Engl J Med · April 15, 2010 BACKGROUND: Pompe's disease is a metabolic myopathy caused by a deficiency of acid alpha glucosidase (GAA), an enzyme that degrades lysosomal glycogen. Late-onset Pompe's disease is characterized by progressive muscle weakness and loss of respiratory funct ... Full text Link to item Cite

Hypovitaminosis D in glycogen storage disease type I.

Journal Article Mol Genet Metab · April 2010 Glycogen storage disease type I (GSD I) is caused by inherited defects of the glucose 6-phosphatase complex, resulting in fasting hypoglycemia, lactic acidosis, hyperuricemia and hyperlipidemia. Sixteen out of 26 (61.5%) GSD I patients in our study had sub ... Full text Link to item Cite

Stone forming risk factors in patients with type Ia glycogen storage disease.

Journal Article J Urol · March 2010 PURPOSE: Patients with type Ia glycogen storage disease have an increased recurrent nephrolithiasis rate. We identified stone forming risk factors in patients with type Ia glycogen storage disease vs those in stone formers without the disease. MATERIALS AN ... Full text Link to item Cite

Immunomodulatory gene therapy prevents antibody formation and lethal hypersensitivity reactions in murine pompe disease.

Journal Article Mol Ther · February 2010 Infantile Pompe disease progresses to a lethal cardiomyopathy in absence of effective treatment. Enzyme-replacement therapy (ERT) with recombinant human acid alpha-glucosidase (rhGAA) has been effective in most patients with Pompe disease, but efficacy was ... Full text Link to item Cite

74. Immunological aspects of treatment of Pompe disease

Conference Molecular Genetics and Metabolism · February 2010 Full text Cite

Clinical and histologic ocular findings in pompe disease.

Journal Article J Pediatr Ophthalmol Strabismus · 2010 PURPOSE: Limited information is available on the ocular findings in patients with Pompe disease. METHOD: This study summarizes this information with a systematic literature review; reports the ocular histologic findings seen in a deceased infant with Pompe ... Full text Link to item Cite

Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants.

Journal Article Mol Genet Metab · January 2010 Deficiency of acid alpha glucosidase (GAA) causes Pompe disease, which is usually fatal if onset occurs in infancy. Patients synthesize a non-functional form of GAA or are unable to form native enzyme. Enzyme replacement therapy with recombinant human GAA ... Full text Link to item Cite

Immunological aspects of treatment of Pompe disease

Conference Clinical Therapeutics · January 2010 Full text Cite

Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage disease.

Journal Article Hum Mol Genet · December 15, 2009 Hepatocellular adenoma (HCA) is a frequent long-term complication of glycogen storage disease type I (GSD I) and malignant transformation to hepatocellular carcinoma (HCC) is known to occur in some cases. However, the molecular pathogenesis of tumor develo ... Full text Link to item Cite

Immunomodulatory gene therapy in lysosomal storage disorders.

Journal Article Curr Gene Ther · December 2009 Significant advances in therapy for lysosomal storage disorders have occurred with an accelerating pace over the past decade. Although enzyme replacement therapy has improved the outcome of lysosomal storage disorders, antibody responses have occurred and ... Full text Link to item Cite

Prenatal diagnosis of Down syndrome: how best to deliver the news.

Journal Article Am J Med Genet A · November 2009 We sought to provide evidence-based recommendations to physicians on how to best deliver a prenatal diagnosis of DS to expectant parents. Our study design consisted of searching Medline and PsychInfo from 1960 to 2008, as well as Web sites from academic or ... Full text Link to item Cite

Postnatal diagnosis of Down syndrome: synthesis of the evidence on how best to deliver the news.

Journal Article Pediatrics · October 2009 CONTEXT: Many parents of children with Down syndrome (DS) have expressed dissatisfaction with how they learned about their child's diagnosis. DS remains the most common chromosomal condition, occurring in 1 of every 733 births, with the majority of childre ... Full text Link to item Cite

Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease.

Journal Article Pediatr Res · September 2009 In a previous 52-wk trial, treatment with alglucosidase alpha markedly improved cardiomyopathy, ventilatory function, and overall survival among 18 children <7 mo old with infantile-onset Pompe disease. Sixteen of the 18 patients enrolled in an extension s ... Full text Link to item Cite

Liver transplantation for glycogen storage disease type Ia.

Journal Article J Hepatol · September 2009 BACKGROUND/AIMS: Hepatocellular carcinoma (HCC) most often occurs within hepatocellular adenomas (HCAs) in glycogen storage disease Ia (GSD Ia) patients. The objective of this retrospective study is to assess outcomes after liver transplantation (LT) for G ... Full text Link to item Cite

The efficacy, safety, and tolerability of donepezil for the treatment of young adults with Down syndrome.

Journal Article Am J Med Genet A · August 2009 The objective of our study was to assess the efficacy and safety of donepezil in young adults with Down syndrome (DS) but no evidence of Alzheimer disease (AD). A 12-week, randomized, double-blind, placebo-controlled study with a 12-week, open-label extens ... Full text Link to item Cite

Emerging therapies for glycogen storage disease type I.

Journal Article Trends Endocrinol Metab · July 2009 Glycogen storage disease type I (GSD I) is caused by deficiency of the glucose-6-phosphatase catalytic subunit in type Ia or of glucose-6-phosphate transporter in type Ib. The cellular bases for disruptions of homeostasis have been increasingly understood ... Full text Link to item Cite

Long-term monitoring of patients with infantile-onset Pompe disease on enzyme replacement therapy using a urinary glucose tetrasaccharide biomarker.

Journal Article Genet Med · July 2009 PURPOSE: To investigate the correlation of the urinary glucose tetrasaccharide, Glcalpha1-6Glcalpha1-4Glcalpha1-4Glc, (Glc4) with skeletal muscle glycogen content and the long-term clinical response to enzyme replacement therapy with recombinant human acid ... Full text Link to item Cite

Screening for Pompe disease using a rapid dried blood spot method: experience of a clinical diagnostic laboratory.

Journal Article Muscle Nerve · July 2009 Pompe disease (acid maltase deficiency; glycogen storage disease type II) is caused by deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). Our clinical laboratory began to offer a fluorometric dried blood spot (DBS)-based GAA activity assay fo ... Full text Link to item Cite

Diagnostic criteria for late-onset (childhood and adult) Pompe disease.

Journal Article Muscle Nerve · July 2009 The diagnosis of late-onset (childhood and adult) Pompe disease can often be challenging, as it is a rare disease and the heterogeneous clinical presentation can mimic the presentation of other neuromuscular disorders. The objective was to develop a consen ... Full text Link to item Cite

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.

Journal Article Mol Genet Metab · April 2009 Imiglucerase (Cerezyme) has been the standard of care for treatment of Gaucher disease, a lysosomal storage disorder resulting from deficiency of glucocerebrosidase, since its approval in 1994. Infusions are typically given once every 2 weeks. However, man ... Full text Link to item Cite

Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease.

Journal Article Genet Med · March 2009 PURPOSE: A clinical trial was conducted to evaluate the safety and efficacy of alglucosidase alfa in infants and children with advanced Pompe disease. METHODS: Open-label, multicenter study of IV alglucosidase alfa treatment in 21 infants 3-43 months old ( ... Full text Link to item Cite

76. CRIM responses in Pompe disease

Conference Molecular Genetics and Metabolism · February 2009 Full text Cite

Language and speech function in children with infantile Pompe disease

Journal Article Journal of Pediatric Neurology · January 1, 2009 Pompe disease, also known as glycogen storage disease type II and acid maltase deficiency, is a rare autosomal recessive progressive neuromuscular disorder. The natural course of the infantile form of this condition has resulted in mortality for patients p ... Full text Open Access Cite

Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease: a case study.

Journal Article Mol Genet Metab · December 2008 Benefits of enzyme replacement therapy with Myozyme (alglucosidase alfa), anecdotally reported in late-onset Pompe disease, range from motor and pulmonary improvement in less severely affected patients, to stabilization with minimal improvement in those wi ... Full text Link to item Cite

Cardiac remodeling after enzyme replacement therapy with acid alpha-glucosidase for infants with Pompe disease.

Journal Article Pediatr Cardiol · November 2008 BACKGROUND: Infantile Pompe disease (glycogen storage disease type 2) is a fatal disorder caused by deficiency of acid alpha-glucosidase. This deficiency results in glycogen accumulation in the lysosomes of many tissues including cardiac muscle. The diseas ... Full text Link to item Cite

Arrhythmias in patients receiving enzyme replacement therapy for infantile Pompe disease.

Journal Article Genet Med · October 2008 PURPOSE: Enzyme replacement therapy in infants with Pompe disease prolongs survival, decreases cardiomegaly, and improves muscle function. Because ectopy has been previously described in these patients, we sought to determine the prevalence and types of ar ... Full text Link to item Cite

AAV vector-mediated reversal of hypoglycemia in canine and murine glycogen storage disease type Ia.

Journal Article Mol Ther · April 2008 Glycogen storage disease type Ia (GSD-Ia) profoundly impairs glucose release by the liver due to glucose-6-phosphatase (G6Pase) deficiency. An adeno-associated virus (AAV) containing a small human G6Pase transgene was pseudotyped with AAV8 (AAV2/8) to opti ... Full text Link to item Cite

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting.

Journal Article Mol Genet Metab · March 2008 Pompe disease is an autosomal recessive disorder of glycogen metabolism caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). It presents at any age, with variable rates of progression ranging from a rapidly progressive course, often ... Full text Link to item Cite

Pompe's disease: Enzyme replacement therapy

Journal Article Drugs of the Future · December 1, 2007 The approval of Myozyme® (alglucosidase alfa; Genzyme) represented the first significant advance in therapy for Pompe's disease. Pompe's disease is the inherited deficiency of acid α-glucosidase (GAA), and hence the rationale for treatment with Myozyme®, a ... Full text Cite

68 Diagnosing and treating Pompe disease, long term outcome and risk factors

Conference Molecular Genetics and Metabolism · December 2007 Full text Cite

Newborn screening for Pompe disease: synthesis of the evidence and development of screening recommendations.

Journal Article Pediatrics · November 2007 BACKGROUND: Pompe disease is a lysosomal storage disorder that leads to the accumulation of glycogen and subsequently to muscle weakness, organ damage, and death. Pompe disease is detectable through newborn screening, and treatment has become available rec ... Full text Link to item Cite

Sibling phenotype concordance in classical infantile Pompe disease.

Journal Article Am J Med Genet A · November 1, 2007 Pompe disease (acid-alpha-glucosidase deficiency) encompasses a clinical spectrum, ranging from severe infantile-onset disease with clinical symptoms appearing before 1 year of age with rapid progression to an early death, to late-onset disease with a much ... Full text Link to item Cite

Resection of hepatocellular adenoma in patients with glycogen storage disease type Ia.

Journal Article J Hepatol · November 2007 BACKGROUND/AIMS: Because dietary modifications have prolonged the life expectancy of patients with glycogen storage disease type Ia (GSD Ia), the incidence of hepatocellular adenoma (HCA) to carcinoma (HCC) transformation is increasing. The objective of th ... Full text Link to item Cite

Enhanced response to enzyme replacement therapy in Pompe disease after the induction of immune tolerance.

Journal Article Am J Hum Genet · November 2007 Pompe disease, which results from mutations in the gene encoding the glycogen-degrading lysosomal enzyme acid alpha -glucosidase (GAA) (also called "acid maltase"), causes death in early childhood related to glycogen accumulation in striated muscle and an ... Full text Link to item Cite

Three successful pregnancies through dietary management of fructose-1,6-bisphosphatase deficiency.

Journal Article J Inherit Metab Dis · October 2007 Fructose-1,6-bisphosphatase (FBPase) deficiency (OMIM 229700) has been characterized as the cause of life-threatening hypoglycaemia and lactic acidaemia following prolonged fasting. The patient, an adult African-American woman, presented during the second ... Full text Link to item Cite

Enzyme-deficiency metabolic cardiomyopathies and the role of enzyme replacement therapy

Journal Article Progress in Pediatric Cardiology · September 1, 2007 Cardiovascular abnormalities are common in some lysosomal storage disorders (LSD) as a result of intracellular accumulation of the storage material. The heart is a major organ of involvement, with a hypertrophic type cardiomyopathy as a cardinal clinical m ... Full text Cite

Cardiac arrhythmias following anesthesia induction in infantile-onset Pompe disease: a case series.

Journal Article Paediatr Anaesth · August 2007 BACKGROUND: Patients with infantile-onset Pompe disease suffer from marked hypertrophic cardiomyopathy and an increased risk of arrhythmia. A noncompliant left ventricle predisposes these infants to diastolic heart failure with elevated left ventricular en ... Full text Link to item Cite

Preliminary study of the safety and efficacy of donepezil hydrochloride in children with Down syndrome: a clinical report series.

Journal Article Am J Med Genet A · July 1, 2007 There is growing evidence to support the use of early central cholinergic enhancement to improve cognitive functioning in individuals with Down syndrome (DS). This report summarizes preliminary safety and cognitive efficacy data for seven children (8-13 ye ... Full text Link to item Cite

Fractures in children with Pompe disease: a potential long-term complication.

Journal Article Pediatr Radiol · May 2007 BACKGROUND: Pompe disease (glycogen storage disease type II or acid maltase deficiency) is an autosomal recessive disorder caused by deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). Classic infantile-onset disease, characterized by cardiome ... Full text Link to item Cite

Glycogen storage disease types I and II: treatment updates.

Journal Article J Inherit Metab Dis · April 2007 Prior to 2006 therapy for glycogen storage diseases consisted primarily of dietary interventions, which in the case of glycogen storage disease (GSD) type II (GSD II; Pompe disease) remained essentially palliative. Despite improved survival and growth, lon ... Full text Link to item Cite

Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots.

Journal Article Mol Genet Metab · April 2007 The enzymatic defect in Pompe disease is insufficient lysosomal acid alpha-glucosidase (GAA) activity which leads to lysosomal glycogen accumulation. We recently introduced a simple and reliable method to measure GAA activity in dried blood spots using Aca ... Full text Link to item Cite

Glycogen storage disease type III-hepatocellular carcinoma a long-term complication?

Journal Article J Hepatol · March 2007 BACKGROUND/AIMS: Glycogen storage disease III (GSD III) is caused by a deficiency of glycogen-debranching enzyme which causes an incomplete glycogenolysis resulting in glycogen accumulation with abnormal structure (short outer chains resembling limit dextr ... Full text Link to item Cite

Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease.

Journal Article Neurology · January 9, 2007 BACKGROUND: Pompe disease is a progressive metabolic neuromuscular disorder resulting from deficiency of lysosomal acid alpha-glucosidase (GAA). Infantile-onset Pompe disease is characterized by cardiomyopathy, respiratory and skeletal muscle weakness, and ... Full text Link to item Cite

Lysosomal storage and transport disorders

Chapter · January 1, 2007 Lysosomes were discovered in 1959 through a series of brilliant investigations by de Duve and coworkers (14,15). These cytoplasmic organelles, ubiquitous in distribution in living cells, show great diversity in form, origin, and function. Varying in diamet ... Cite

Deconstructing Pompe disease by analyzing single muscle fibers: to see a world in a grain of sand..

Journal Article Autophagy · 2007 Autophagy is a major pathway for delivery of proteins and organelles to lysosomes where they are degraded and recycled. We have previously shown excessive autophagy in a mouse model of Pompe disease (glycogen storage disease type II), a devastating myopath ... Full text Link to item Cite

Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease.

Journal Article Lab Invest · December 2006 In Pompe disease, a genetic deficiency of lysosomal acid alpha-glucosidase, glycogen accumulates abnormally in the lysosomes of skeletal, cardiac and smooth muscle, and contributes to clinically progressive and debilitating muscle weakness. The present stu ... Full text Link to item Cite

Safety and efficacy of rivastigmine in adolescents with Down syndrome: a preliminary 20-week, open-label study.

Journal Article J Child Adolesc Psychopharmacol · December 2006 Individuals with Down syndrome (DS) exhibit a cholinergic deficiency similar to that found in Alzheimer's disease. Cholinesterase inhibitors, used to treat Alzheimer's disease, may improve cognitive function in individuals with DS. This is the first invest ... Full text Link to item Cite

Current perspectives on Down syndrome: selected medical and social issues.

Journal Article Am J Med Genet C Semin Med Genet · August 15, 2006 Full text Link to item Cite

Clinical manifestations of hematologic and oncologic disorders in patients with Down syndrome.

Journal Article Am J Med Genet C Semin Med Genet · August 15, 2006 Hematologic abnormalities are common in individuals with Down syndrome (DS). Increased erythrocyte mean corpuscular volume (MCV) is frequently found among DS infants and remains elevated throughout life in two-thirds of patients, making interpretation of r ... Full text Link to item Cite

Clinical trials in children with Down syndrome: issues from a cognitive research perspective.

Journal Article Am J Med Genet C Semin Med Genet · August 15, 2006 Clinical and translational research play a key role in the transition of basic research discoveries to effective therapies. In Down syndrome (DS), these research approaches are not well utilized or developed to test new therapies to improve cognitive and/o ... Full text Link to item Cite

Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease.

Journal Article J Pediatr · July 2006 OBJECTIVE: To conduct an open-label, multinational, multicenter study examining the safety and efficacy of recombinant human acid alpha-glucosidase (rhGAA) in treatment of infantile-onset Pompe disease. STUDY DESIGN: We enrolled 8 infant patients who had P ... Full text Link to item Cite

A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease.

Journal Article J Pediatr · May 2006 OBJECTIVE: To characterize the natural progression of infantile-onset Pompe disease. STUDY DESIGN: Retrospective chart reviews of 168 patients with documented acid alpha-glucosidase deficiency and symptom onset by 12 months of age; Kaplan-Meier analysis of ... Full text Link to item Cite

The use of acarbose inhibition in the measurement of acid alpha-glucosidase activity in blood lymphocytes for the diagnosis of Pompe disease.

Journal Article Genet Med · May 2006 PURPOSE: Acid alpha-glucosidase is present in various tissues, including blood cells. Historically, enzyme measurement in cultured fibroblasts, or muscle, has been the gold standard to confirm a diagnosis of Pompe disease, due to the possibility of alterna ... Full text Link to item Cite

Physical therapy management of Pompe disease.

Journal Article Genet Med · May 2006 Pompe disease (Glycogen storage disease type II, GSDII, or acid maltase deficiency) is an autosomal recessive disorder characterized by deficiency of acid alpha-glucosidase resulting in intra-lysosomal accumulation of glycogen and leading to progressive mu ... Full text Link to item Cite

Electrocardiographic response to enzyme replacement therapy for Pompe disease.

Journal Article Genet Med · May 2006 PURPOSE: Electrocardiogram (ECG) abnormalities are universal in infantile Pompe disease or glycogen storage disease type II, a fatal genetic muscle disorder caused by deficiency of acid alpha-glucosidase (GAA). Hallmarks of this disease include a shortened ... Full text Link to item Cite

Ambulatory electrocardiogram analysis in infants treated with recombinant human acid alpha-glucosidase enzyme replacement therapy for Pompe disease.

Journal Article Genet Med · May 2006 PURPOSE: Infantile Pompe disease is caused by deficiency of lysosomal acid alpha-glucosidase. Trials with recombinant human acid alpha-glucosidase enzyme replacement therapy (ERT) show a decrease in left ventricular mass and improved function. We evaluated ... Full text Link to item Cite

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.

Journal Article Genet Med · May 2006 PURPOSE: The study's purpose was to compare acarbose and maltose as inhibitors of maltase-glucoamylase activity for determining acid alpha-glucosidase activity in dried blood spot specimens for early identification of patients with infantile Pompe disease, ... Full text Link to item Cite

Diagnostic challenges for Pompe disease: an under-recognized cause of floppy baby syndrome.

Journal Article Genet Med · May 2006 Pompe disease, a disorder caused by a deficiency in the lysosomal enzyme acid alpha glucosidase, is frequently overlooked as a cause of floppy baby syndrome. The accurate diagnosis of floppy baby syndrome requires the sequential evaluation of medical cause ... Full text Link to item Cite

Urea cycle disorders: clinical presentation outside the newborn period.

Journal Article Crit Care Clin · October 2005 Although most commonly associated with infancy, the majority of individuals with urea cycle disorders (UCDs) present outside the neonatal period, frequently in childhood. Signs and symptoms are often vague, but recurrent; fulminant presentations associated ... Full text Link to item Cite

Triploid mosaicism in a 45,X/69,XXY infant.

Journal Article Am J Med Genet A · October 1, 2005 We report on an infant referred for chromosome analysis during the neonatal period due to ambiguous genitalia. The genitalia appeared male with bilaterally palpable testes, penoscrotal hypospadias, chordee, and a bifid scrotum. Chromosome analysis and inte ... Full text Link to item Cite

Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe disease.

Journal Article Mol Genet Metab · August 2005 A tetraglucose oligomer, Glcalpha1-6Glcalpha1-4Glcalpha1-4Glc, designated Glc4, has been shown to be a putative biomarker for the diagnosis of Pompe disease. The purpose of this study was to assess whether Glc4 could be used to monitor the therapeutic resp ... Full text Link to item Cite

Divergent phenotypes in Gaucher disease implicate the role of modifiers.

Journal Article J Med Genet · June 2005 BACKGROUND: Gaucher disease is classified into neuronopathic and non-neuronopathic forms with wide phenotypic variation among patients sharing the same genotype. While homozygosity for the common L444P allele usually correlates with the neuronopathic forms ... Full text Link to item Cite

Benzoate treatment and the glycine index in nonketotic hyperglycinaemia.

Journal Article J Inherit Metab Dis · 2005 High-dose benzoate treatment aimed at reducing plasma glycine levels to normal reduces seizures and increases wakefulness in patients with nonketotic hyperglycinaemia (NKH). Since benzoate metabolism is dependent on the available glycine pool, and since th ... Full text Link to item Cite

Hepatocellular carcinoma in glycogen storage disease type Ia: a case series.

Journal Article J Inherit Metab Dis · 2005 We present a series of 8 patients (6 males, 2 females) with hepatocellular carcinoma (HCC) and glycogen storage disease type Ia (GSD Ia). In this group, the age at which treatment was initiated ranged from birth to 39 years (mean 9.9 years). All patients b ... Full text Link to item Cite

Donepezil effects on language in children with Down syndrome: results of the first 22-week pilot clinical trial.

Journal Article American journal of medical genetics. Part A · October 2004 Cite

Nephrotic syndrome complicating alpha-glucosidase replacement therapy for Pompe disease.

Journal Article Pediatrics · October 2004 We report a patient with Pompe disease who developed reversible nephrotic syndrome during prolonged, high-dose, experimental, enzyme replacement therapy with recombinant human acid alpha-glucosidase (rhGAA). Because of the development of antibodies to rhGA ... Full text Link to item Cite

New onset focal weakness in children with Down syndrome.

Journal Article American journal of medical genetics. Part A · July 2004 New onset focal weakness is relatively common in patients with Down syndrome (DS), and has broad differential diagnosis. Ten cases of new onset focal weakness in patients with DS were encountered or are currently being followed in two DS clinics, with a co ... Cite

New onset focal weakness in children with Down syndrome.

Journal Article Am J Med Genet A · July 1, 2004 New onset focal weakness is relatively common in patients with Down syndrome (DS), and has broad differential diagnosis. Ten cases of new onset focal weakness in patients with DS were encountered or are currently being followed in two DS clinics, with a co ... Full text Link to item Cite

Anaesthetic management of infants with glycogen storage disease type II: a physiological approach.

Journal Article Paediatr Anaesth · June 2004 Pompe or Glycogen Storage Disease type II (GSD-II) is a genetic disorder affecting both cardiac and skeletal muscle. Historically, patients with the infantile form usually die within the first year of life due to cardiac and respiratory failure. Recently a ... Full text Link to item Cite

Donepezil use in Down syndrome.

Journal Article Arch Neurol · April 2004 Full text Link to item Cite

Hypothyroidism in Down syndrome: screening guidelines and testing methodology.

Journal Article American journal of medical genetics. Part A · February 2004 Cite

Hypothyroidism in Down syndrome: screening guidelines and testing methodology.

Journal Article Am J Med Genet A · February 1, 2004 Featured Publication Full text Link to item Cite

Hypothyroidism in Down Syndrome: Screening Guidelines and Testing Methodology [4]

Journal Article American Journal of Medical Genetics · February 1, 2004 Full text Cite

Diagnostic and treatment challenges of neuronopathic Gaucher disease: two cases with an intermediate phenotype.

Journal Article J Inherit Metab Dis · 2004 Gaucher disease (GD) is a lysosomal storage disorder with a broad, overlapping clinical spectrum. The presented two case reports highlight the clinical evaluation required in neuronopathic GD to assist with medical management and genetic counselling. ... Full text Link to item Cite

Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening.

Journal Article Pediatr Res · August 2003 Featured Publication Tandem mass spectrometry was adopted for newborn screening by North Carolina in April 1999. Since then, three infants with short-chain acyl-CoA dehydrogenase (SCAD) and one with isobutyryl-CoA dehydrogenase deficiency were detected on the basis of elevated ... Full text Link to item Cite

Donepezil for the treatment of language deficits in adults with Down syndrome: a preliminary 24-week open trial.

Journal Article Am J Med Genet A · January 15, 2003 Featured Publication At present, there is no proven pharmacologic treatment for cognitive or language impairments in Down syndrome (DS). Cholinergic deficits have been documented in DS and linked to cognitive deficits. This study is a 24-week open-label clinical trial of donep ... Full text Link to item Cite

Idiopathic hyperammonemia following an unrelated cord blood transplant for mucopolysaccharidosis I.

Journal Article Pediatr Dev Pathol · 2003 Featured Publication Bone marrow transplantation (BMT) has been shown to reverse or stabilize some manifestations of mucopolysaccharidosis I (Hurler syndrome). Idiopathic hyperammonemia (IHA) is a rare complication of solid organ and BMT that is characterized by elevated serum ... Full text Link to item Cite

Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening.

Journal Article J Inherit Metab Dis · 2003 Featured Publication Since the addition of tandem mass spectrometry (MS/MS) to the North Carolina Newborn Screening Program, 20 infants with two consecutive elevated 3-hydroxyisovalerylcarnitine (C5OH) levels have been evaluated for evidence of inborn errors of metabolism asso ... Full text Link to item Cite

Delivery of glucose-6-phosphatase in a canine model for glycogen storage disease, type Ia, with adeno-associated virus (AAV) vectors.

Journal Article Gene Ther · August 2002 Therapy in glycogen storage disease type Ia (GSD Ia), an inherited disorder of carbohydrate metabolism, relies on nutritional support that postpones but fails to prevent long-term complications of GSD Ia. In the canine model for GSD Ia, we evaluated the po ... Full text Link to item Cite

Frequency of celiac disease in individuals with Down syndrome in the United States.

Journal Article Clin Pediatr (Phila) · May 2001 Featured Publication Ninety-three individuals with Down syndrome (DS) were screened to investigate the prevalence of celiac disease (CD) in the United States. Five of the 93 individuals were antiendomysial antibody (EMA) positive. Of the 5 who tested positive for EMA, 4 were b ... Full text Link to item Cite

Canine model and genomic structural organization of glycogen storage disease type Ia (GSD Ia).

Journal Article Vet Pathol · January 2001 Featured Publication A canine model of glycogen storage disease Ia (GSD Ia), similar clinically, biochemically, and pathologically to the human disease, was established by crossbreeding Maltese and Beagle dogs carrying a mutated, defective glucose-6-phosphatase (G-6-Pase) gene ... Full text Link to item Cite

Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial.

Journal Article Genet Med · 2001 PURPOSE: Infantile glycogen storage disease type II (GSD-II) is a fatal genetic muscle disorder caused by deficiency of acid alpha-glucosidase (GAA). The purpose of this study was to investigate the safety and efficacy of recombinant human GAA (rhGAA) enzy ... Link to item Cite

Donepezil for Down's syndrome.

Journal Article Am J Psychiatry · January 2001 Featured Publication Full text Link to item Cite

Acute hydrocephalus in nonketotic hyperglycinemia.

Journal Article Neurology · February 8, 2000 Featured Publication We present four patients with typical neonatal onset non-ketotic hyperglycinemia (NKH) who developed hydrocephalus requiring shunting in early infancy. Brain imaging revealed acute hydrocephalus, a megacisterna magna or posterior fossa cyst, pronounced atr ... Full text Link to item Cite

Oropharyngeal dysphagia

Journal Article Clinical Perspectives in Gastroenterology · January 1, 2000 Swallowing is a highly coordinated cascade of events, involving 30 pairs of muscles, six pairs of cranial/cervical nerves, and brain-stem and cortical swallowing centers, that results int he passage of ingested materials and oropharyngeal secretions into t ... Cite

Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease.

Journal Article Mol Genet Metab · January 2000 Featured Publication Deficiency of glycogen debranching enzyme (AGL) activity causes glycogen storage disease type III (GSD-III). Generalized loss of AGL activity results in GSD-IIIa, and muscle-specific retention of AGL activity results in GSD-IIIb. To date, no common mutatio ... Full text Link to item Cite

Treatment of pyruvate carboxylase deficiency with high doses of citrate and aspartate.

Journal Article Am J Med Genet · December 3, 1999 Featured Publication A patient with severe pyruvate carboxylase deficiency presented at age 11 weeks with metabolic decompensation after routine immunization. She was comatose, had severe lactic acidemia (22 mM) and ketosis, low aspartate and glutamate, elevated citrulline and ... Full text Link to item Cite

Dubowitz syndrome: a defect in the cholesterol biosynthetic pathway?

Journal Article Am J Med Genet · October 29, 1999 Featured Publication Link to item Cite

Nutritional deficiencies in a patient with glycogen storage disease type Ib.

Journal Article J Inherit Metab Dis · October 1999 Featured Publication The current mainstay of treatment in glycogen storage disease type I (GSD I) is dietary management that includes providing a frequent source of glucose to prevent hypoglycaemia. To ensure compliance, routine follow-up by a health care team, including a die ... Full text Link to item Cite

Cholinergic therapy for Down's syndrome.

Journal Article Lancet · March 27, 1999 Featured Publication Full text Link to item Cite

Isolation and nucleotide sequence of canine glucose-6-phosphatase mRNA: identification of mutation in puppies with glycogen storage disease type Ia.

Journal Article Biochem Mol Med · August 1997 Featured Publication Two Maltese puppies with massive hepatomegaly and failure to thrive had isolated deficient glucose-6-phosphatase (G-6-Pase) activity in liver and kidney and pathological findings compatible with GSD-Ia. To identify the mutation, we cloned G-6-Pase canine c ... Full text Link to item Cite

Acute pancreatitis in an infant with lactic acidosis and a mutation at nucleotide 3243 in the mitochondrial DNA tRNALeu(UUR) gene.

Journal Article Eur J Pediatr · October 1996 Featured Publication UNLABELLED: The A to G point mutation at position 3243 of the mitochondrial DNA tRNALeu(UUR) gene is commonly found in patients with the syndrome of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). A male patient was refer ... Full text Link to item Cite

Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome.

Journal Article J Med Genet · September 1996 It is now well established that defects in fibrillin-1 (FBN1) cause the variable and pleiotropic features of Marfan syndrome (MFS) and, at the most severe end of its clinical spectrum, neonatal Marfan syndrome (nMFS). Patients with nMFS have mitral and tri ... Full text Link to item Cite

Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.

Journal Article J Clin Invest · February 15, 1996 Glycogen storage disease type IV (GSD-IV) is an autosomal recessive disease resulting from deficient glycogen-branching enzyme (GBE) activity. The classic and most common form is progressive liver cirrhosis and failure leading to either liver transplantati ... Full text Link to item Cite

Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease.

Journal Article J Inherit Metab Dis · 1996 The classic clinical presentation for type IV glycogen storage disease (branching enzyme deficiency, GSD IV) is hepatosplenomegaly with failure to thrive occurring in the first 18 months of life, followed by progressive liver failure and death by age 5 yea ... Full text Link to item Cite

Benzoate therapy and carnitine deficiency in non-ketotic hyperglycinemia.

Journal Article Am J Med Genet · December 4, 1995 Five patients presenting with non-ketotic hyperglycinemia in the neonatal period were treated with sodium benzoate to normalize plasma glycine levels. This therapy resulted in seizure reduction and a marked increase in wakefulness. Plasma carnitine deficie ... Full text Link to item Cite

Hemangioma, supraumbilical midline raphé, and coarctation of the aorta with a right aortic arch: single causal entity?

Journal Article Am J Med Genet · October 23, 1995 Most congenital cutaneous hemangiomas are a sporadic occurrence. Hemangiomas have been found in association with coarctation of the aorta and a right aortic arch. A separate association has been noted of midline ventral defects with hemangiomas. We report ... Full text Link to item Cite

Whole-brain irradiation and decline in intelligence: the influence of dose and age on IQ score.

Journal Article J Clin Oncol · September 1992 PURPOSE: Decline in intelligence can occur after whole-brain cranial irradiation for childhood malignancy. The purpose of this analysis was to estimate better the impact of dose and age at time of irradiation on IQ decline. PATIENTS AND METHODS: A total of ... Full text Link to item Cite