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Deeksha Sarihyan Bali

Deeksha Sarihyan Bali

Professor of Pediatrics
Pediatrics, Medical Genetics
4th Floor, GSRBI, 905 LaSalle Street, Division of Medical Genetics, Durham, NC 27710
801 Capitola Drive, Suite 6, Durham, NC 27713

Selected Publications

Variant classification for mucopolysaccharidosis type I; ACMG/AMP specification for IDUA from the ClinGen lysosomal diseases variant curation expert panel.

Journal Article Mol Genet Metab · May 20, 2026 With the increasing use of DNA sequencing technologies in healthcare, an accurate understanding of the clinical relevance of genetic variants is vital for the appropriate integration of these results into personalized care. To address this need, the NIH-fu ... Full text Link to item Cite

A North Carolina Newborn Screening Pilot for Mucopolysaccharidosis II: Evaluating Endogenous Non-Reducing End Glycosaminoglycan Analysis and IDS Sequencing as Higher-Tier Testing Options.

Journal Article Genet Med · April 21, 2026 PURPOSE: Mucopolysaccharidosis II (MPS II, OMIM 309900) is a lysosomal disorder recommended for newborn screening (NBS) in the United States. This study evaluated outcomes of high-throughput NBS for MPS II and use of two reflex testing methods to improve s ... Full text Link to item Cite

Cell modeling and rescue of a novel noncoding genetic cause of glycogen storage disease IX.

Journal Article Genet Med Open · 2026 PURPOSE: Delayed diagnosis of Mendelian disease prevents early therapeutic intervention that could improve symptoms and prognosis. One major contributing challenge is functional interpretation of noncoding variants that alter splicing. Here, we aimed to be ... Full text Link to item Cite

Focused ultrasound delivery of enzyme replacement therapy to the brain of Gaa-/- Pompe disease mice.

Journal Article Mol Genet Metab · January 2026 Clinically used enzyme replacements therapies (ERTs) have been successful in mitigating peripheral tissue pathology in patients with infantile onset (IOPD) and late onset (LOPD) Pompe disease (PD). However, none of the approved therapies are known to cross ... Full text Link to item Cite

Predicting subtypes of glycogen storage disease type IV: Challenges of hepatic subtypes and genotype-phenotype correlation.

Journal Article Mol Genet Metab · December 2025 Glycogen storage disease type IV (GSD IV) is a rare autosomal recessive disease caused by the deficiency of the glycogen branching enzyme encoded by GBE1. GSD IV can present with variable age of onset and severity of disease processes involving liver, cent ... Full text Link to item Cite

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

Enabling CNS delivery of rhGAA in GAA mice using focused ultrasound

Conference Molecular Genetics and Metabolism · February 2025 Full text Cite

In utero enzyme replacement therapy for lysosomal storage disorders

Conference JOURNAL OF INVESTIGATIVE MEDICINE · January 2025 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

Assessment of genes involved in lysosomal diseases using the ClinGen clinical validity framework.

Journal Article Mol Genet Metab · November 2024 Lysosomal diseases (LDs) are a heterogeneous group of rare genetic disorders that result in impaired lysosomal function, leading to progressive multiorgan system dysfunction. Accurate diagnosis is paramount to initiating targeted therapies early in the dis ... Full text Link to item Cite

Development of a scoring system to define lysosomal diseases

Conference Molecular Genetics and Metabolism · April 2024 Full text Cite

Development of a scoring system to define lysosomal disease

Conference Molecular Genetics and Metabolism · February 2024 Full text Cite

Developing a scoring system for gene curation prioritization in lysosomal diseases.

Journal Article Mol Genet Metab · 2024 INTRODUCTION: Diseases caused by lysosomal dysfunction often exhibit multisystemic involvement, resulting in substantial morbidity and mortality. Ensuring accurate diagnoses for individuals with lysosomal diseases (LD) is of great importance, especially wi ... 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

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

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

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

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

Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel.

Journal Article Mol Genet Metab · 2023 Accurate determination of the clinical significance of genetic variants is critical to the integration of genomics in medicine. To facilitate this process, the NIH-funded Clinical Genome Resource (ClinGen) has assembled Variant Curation Expert Panels (VCEP ... Full text 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

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

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

Conference Molecular Genetics and Metabolism · February 2022 Full text 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

Variable Genotype-Phenotype Correlation of Pompe's Disease Caused by a c.2015 G > A (p.Arg672Gln) Mutation in the GAA Gene.

Journal Article Neuropediatrics · December 2021 Pompe's disease occurs due to an autosomal recessive trait resulting from numerous distinctive mutations in the GAA gene. It manifests as a broad spectrum of clinical phenotypes with progressive weakness that impairs motor and respiratory functions being c ... Full text 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

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

A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females.

Journal Article Mol Genet Metab · July 2020 PURPOSE: Successful diagnosis of Fabry disease is often delayed or missed in patients, especially females, due to clinical heterogeneity and a lack of disease awareness. We present our experience testing for Fabry disease in high risk populations and discu ... Full text Link to item Cite

Chronic liver disease and impaired hepatic glycogen metabolism in argininosuccinate lyase deficiency.

Journal Article JCI Insight · February 27, 2020 BACKGROUNDLiver disease in urea cycle disorders (UCDs) ranges from hepatomegaly and chronic hepatocellular injury to cirrhosis and end-stage liver disease. However, the prevalence and underlying mechanisms are unclear.METHODSWe estimated the prevalence of ... Full text 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

Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina.

Journal Article JAMA Netw Open · January 3, 2020 IMPORTANCE: X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal genetic disorder in which an accumulation of very long-chain fatty acids leads to inflammatory demyelination in the central nervous system and to adrenal cortex atrophy. In 2016, X-ALD was ... Full text Link to item 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

Fluorimetric assay with a novel substrate for quantification of galactocerebrosidase activity in dried blood spot specimens.

Journal Article Pract Lab Med · January 2020 BACKGROUND: Decreased galactocerebrosidase (GALC) enzyme activity is causative for Krabbe disease, a lysosomal storage disorder with devastating neurodegenerative consequences. Quantitative fluorimetric assays for GALC activity in isolated blood and skin c ... 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

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

The North Carolina Experience with Mucopolysaccharidosis Type I Newborn Screening.

Journal Article J Pediatr · August 2019 OBJECTIVE: To evaluate the performance of a 2-tiered newborn screening method for mucopolysaccharidosis type I (MPS I) in North Carolina. STUDY DESIGN: The screening algorithm included a flow injection analysis-tandem mass spectrometry assay as a first-tie ... Full text Link to item Cite

Variable clinical features and genotype-phenotype correlations in 18 patients with late-onset Pompe disease.

Journal Article Ann Transl Med · July 2019 BACKGROUND: Pompe disease is a lysosomal storage disorder caused by the deficiency of enzyme acid alpha-glucosidase (GAA) which results in accumulation of glycogen, particularly in the skeletal, cardiac, and smooth muscles. The late-onset form with symptom ... 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

Quantification of glucosylsphingosine in plasma/serum by UPLC-MS/MS

Conference Molecular Genetics and Metabolism · February 2019 Full text 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

Current State of the Art of Newborn Screening for Lysosomal Storage Disorders.

Journal Article Int J Neonatal Screen · September 2018 Prospective full-population newborn screening for multiple lysosomal storage disorders (LSDs) is currently practiced in a few NBS programs, and several others are actively pursuing this course of action. Two platforms suitable for multiple LSD screening-ta ... Full text Link to item Cite

Variable clinical features and progression in 18 patients with Pompe disease

Conference Molecular Genetics and Metabolism · February 2018 Full text Cite

Plasma lyso-Gb3 as a diagnostic marker for Fabry disease

Conference Molecular Genetics and Metabolism · February 2018 Full text 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

Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid α-glucosidase.

Journal Article Sci Transl Med · November 29, 2017 Glycogen storage disease type II or Pompe disease is a severe neuromuscular disorder caused by mutations in the lysosomal enzyme, acid α-glucosidase (GAA), which result in pathological accumulation of glycogen throughout the body. Enzyme replacement therap ... 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

Wolman Disease: A Mimic of Infant Leukemia.

Journal Article J Pediatr Hematol Oncol · November 2017 BACKGROUND: Infant leukemia most commonly present with pallor and hepatosplenomegaly. The possibility of other differential diagnosis also has to be kept in mind during evaluation, as identifying the precise etiology for this clinical presentation is cruci ... Full text Link to item Cite

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.

Journal Article Am J Hum Genet · February 2, 2017 Whole-exome sequencing (WES) has increasingly enabled new pathogenic gene variant identification for undiagnosed neurodevelopmental disorders and provided insights into both gene function and disease biology. Here, we describe seven children with a neurode ... Full text 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

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

Late onset Pompe disease case review: Severe isolated hypertrophic cardiomyopathy

Conference Molecular Genetics and Metabolism · February 2016 Full text Cite

Prenatal Diagnosis of Disorders of Carbohydrate Metabolism

Chapter · January 1, 2016 This chapter deals with the common carbohydrate disorders that would most likely be encountered in the population. Discussion of each disorder includes the pathophysiology of the disease (primary enzymatic defect, clinical manifestations), treatments, gene ... Full text 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

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

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

Development of Biomarker Assays for Clinical Diagnostics Using a Digital Microfluidics Platform

Chapter · June 30, 2014 Digital microfluidics (DMF) is a novel lab-on-a-chip technology that permits the transport, mixing, and splitting of sub-microliter droplets within an array of electrodes on a disposable printed circuit board entirely under software control. We describe he ... Full text 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

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

Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia.

Journal Article JIMD Rep · 2014 Intermittent hypoglycemia has been described in association with Alpers' syndrome, a disorder caused by mutations in the mitochondrial DNA polymerase gamma gene. In some patients hypoglycemia may define the initial disease presentation well before the onse ... Full text Link to item Cite

Development of a fluorometric microtiter plate based enzyme assay for MPS IVA (Morquio type A) using dried blood spots.

Journal Article Mol Genet Metab Rep · 2014 Mucopolysaccharidosis type IVA or Morquio type-A disease is a hereditary lysosomal storage disorder caused by deficient activity of the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS). The disease is caused by lysosomal accumulation of u ... Full text Link to item Cite

Development of a fluorometric microtiter plate-based enzyme assay for arylsulfatase B (MPS VI) using dried blood spots.

Journal Article Mol Genet Metab Rep · 2014 Mucopolysaccharidosis type VI or Maroteaux-Lamy syndrome is an autosomal recessive lysosomal storage disorder caused by deficiency of arylsulfatase B (ARS-B) enzyme activity. It results in mild to severe multi-organ system failure from accumulation of undi ... Full text Link to item Cite

Assessment of toxicity and biodistribution of recombinant AAV8 vector-mediated immunomodulatory gene therapy in mice with Pompe disease.

Journal Article Mol Ther Methods Clin Dev · 2014 A preclinical safety study was conducted to evaluate the short- and long-term toxicity of a recombinant adeno-associated virus serotype 8 (AAV2/8) vector that has been developed as an immune-modulatory adjunctive therapy to recombinant human acid α-glucosi ... Full text Open Access Link to item Cite

Novel application of digital microfluidics for the detection of biotinidase deficiency in newborns.

Journal Article Clin Biochem · December 2013 OBJECTIVE: Newborn screening for biotinidase deficiency can be performed using a fluorometric enzyme assay on dried blood spot specimens. As a pre-requisite to the consolidation of different enzymatic assays onto a single platform, we describe here a novel ... Full text Link to item Cite

Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platform.

Journal Article Clin Chim Acta · September 23, 2013 PURPOSE: New therapies for lysosomal storage diseases (LSDs) have generated interest in screening newborns for these conditions. We present performance validation data on a digital microfluidic platform that performs multiplex enzymatic assays for Pompe, F ... Full text Link to item Cite

Rapid assays for Gaucher and Hurler diseases in dried blood spots using digital microfluidics.

Journal Article Mol Genet Metab · June 2013 OBJECTIVE: Easy tool for newborn screening of Gaucher and Hurler diseases. METHODS: Method comparison between fluorometric enzymatic activity assay on a digital microfluidic platform and micro-titer plate bench assay was performed on normal (n = 100), Gauc ... 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

Adjunctive β2-agonists reverse neuromuscular involvement in murine Pompe disease.

Journal Article FASEB J · January 2013 Pompe disease has resisted enzyme replacement therapy with acid α-glucosidase (GAA), which has been attributed to inefficient cation-independent mannose-6-phosphate receptor (CI-MPR) mediated uptake. We evaluated β2-agonist drugs, which increased CI-MPR ex ... Full text Open Access 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

Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review.

Journal Article Hum Pathol · June 2012 Glycogen storage disease type IV is a rare autosomal recessive disorder of glycogen metabolism caused by mutations in the GBE1 gene that encodes the 1,4-alpha-glucan-branching enzyme 1. Its clinical presentation is variable, with the most common form prese ... Full text 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

A novel fluorometric enzyme analysis method for Hunter syndrome using dried blood spots.

Journal Article Mol Genet Metab · March 2012 Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is a lysosomal storage disease caused by deficiency of iduronate-2-sulfatase (IDS). A convenient single-step fluorometric microplate enzyme assay has been developed and validated for clinical diagno ... 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

Rapid LSD Assays on a Multiplex Digital Microfluidic Platform for Newborn Screening

Conference Molecular Genetics and Metabolism · February 2012 Full text 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

Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation.

Journal Article J Child Neurol · February 2012 Anderson disease, also known as glycogen storage disease type IV (MIM 232500), is a rare autosomal recessive disorder caused by a deficiency of glycogen branching enzyme. Glycogen storage disease type IV has a broad clinical spectrum ranging from a perinat ... 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

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

Prenatal diagnosis of Pompe disease: enzyme assay or molecular testing?

Journal Article Indian Pediatr · November 11, 2011 We report two cases which illustrate that enzyme assay results alone, may at times be equivocal and inconclusive in the prenatal diagnosis of storage disorders like Pompe disease and therefore, if the probands mutation is known, targeted mutation analysis ... Full text Link to item Cite

Digital microfluidic platform for multiplexing enzyme assays: implications for lysosomal storage disease screening in newborns.

Journal Article Clin Chem · October 2011 BACKGROUND: Newborn screening for lysosomal storage diseases (LSDs) has been gaining considerable interest owing to the availability of enzyme replacement therapies. We present a digital microfluidic platform to perform rapid, multiplexed enzymatic analysi ... Full text Link to item Cite

Enhanced efficacy of enzyme replacement therapy in Pompe disease through mannose-6-phosphate receptor expression in skeletal muscle.

Journal Article Mol Genet Metab · June 2011 Enzyme replacement therapy (ERT) with acid α-glucosidase has become available for Pompe disease; however, the response of skeletal muscle, as opposed to the heart, has been attenuated. The poor response of skeletal muscle has been attributed to the low abu ... Full text Open Access 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

[Flaps in lower limb reconstruction: A 10-year retrospective review of 157 pedicled flaps.]

Journal Article Annales de chirurgie plastique et esthetique · March 2011 BACKGROUND: The aim of this study was to review and present our experience with pedicled flap reconstruction of lower limb defects with particular reference to choice of flap, complications and pre-existing health disorders. METHODS: A retrospective review ... Full text Cite

Digital microfluidic platform for multiplexing LSD assays in newborn screening

Conference Molecular Genetics and Metabolism · February 2011 Full text Cite

Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV.

Journal Article Hum Mol Genet · February 1, 2011 Glycogen storage disease type IV (GSD-IV) is an autosomal recessive disease caused by a deficiency in glycogen-branching enzyme (GBE1) activity that results in the accumulation of amylopectin-like polysaccharide, which presumably leads to osmotic swelling ... Full text Link to item Cite

Functional p53 is required for effective execution of telomerase inhibition in BCR-ABL-positive CML cells.

Journal Article Experimental hematology · January 2011 OBJECTIVE: In chronic myeloid leukemia (CML), increased cellular turnover of hematopoietic cells driven by the oncogene BCR-ABL leads to accelerated telomere shortening despite increased telomerase activity. It has been postulated that shortened telomeres, ... Full text Cite

The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives.

Journal Article Mol Genet Metab · 2011 Dried blood spot (DBS) methods are currently available for identification of a range of lysosomal storage disorders (LSDs). These disorders are generally characterized by a deficiency of activity of a lysosomal enzyme and by a broad spectrum of phenotypes. ... Full text Link to item Cite

Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder.

Journal Article J Inherit Metab Dis · December 2010 Glycogen storage disease type IV (GSD IV; Andersen disease) is caused by a deficiency of glycogen branching enzyme (GBE), leading to excessive deposition of structurally abnormal, amylopectin-like glycogen in affected tissues. The accumulated glycogen lack ... 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 Featured Publication 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

Digital microfluidics: a future technology in the newborn screening laboratory?

Journal Article Semin Perinatol · April 2010 Expansion of newborn screening for inherited metabolic disorders using tandem mass spectrometry has generated interest in screening for other treatable conditions, including lysosomal storage diseases. Limitations to expansion include labor and equipment c ... Full text Link to item Cite

74. Immunological aspects of treatment of Pompe disease

Conference Molecular Genetics and Metabolism · February 2010 Full text 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

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

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

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

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

Journal Article Mol Genet Metab · December 2008 Featured Publication 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

Gamma polymerase deficiency presenting as glycogen storage disease.

Conference MOLECULAR GENETICS AND METABOLISM · March 2008 Link to item Cite

A case of congenital glycogen storage disease type IV with a novel GBE1 mutation.

Journal Article J Child Neurol · March 2008 Featured Publication Glycogen storage disease type IV (Andersen disease) is a rare metabolic disorder characterized by deficient glycogen branching enzyme activity resulting in abnormal, amylopectin-like glycogen deposition in multiple organs. This article reports on an infant ... 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 Featured Publication 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

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 Featured Publication 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 Featured Publication 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 Featured Publication 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

Glycogen storage disease type IIIa in curly-coated retrievers.

Journal Article J Vet Intern Med · 2007 Featured Publication BACKGROUND: Inborn errors of metabolism impose a significant genetic burden on purebred dogs and cats. The glycogen storage diseases are a category of such disorders that are typed by enzyme analysis, but deoxyribonucleic acid (DNA) based carrier tests are ... Full text Link to item Cite

Telithromycin and myasthenic crisis.

Journal Article Clin Infect Dis · December 15, 2006 Featured Publication Full text Link to item Cite

The knowledge and perceptions of medical personnel relating to outcome after cardiac arrest.

Journal Article Resuscitation · May 2006 Featured Publication OBJECTIVE: We sought to evaluate the knowledge of probable outcome by medical personnel for in-hospital and out-of-hospital cardiac arrests, and self-reported history of CPR training referrals for family members of cardiac patients. METHODS: One hundred pe ... 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 Featured Publication 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

Pompe disease diagnosis and management guideline.

Journal Article Genet Med · May 2006 Featured Publication 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 Featured Publication 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

Non-lethal congenital hypotonia due to glycogen storage disease type IV.

Journal Article Am J Med Genet A · April 15, 2006 Featured Publication Glycogen storage disease type IV (GSD-IV) is an autosomal recessive genetic disorder due to a deficiency in the activity of the glycogen branching enzyme (GBE). A deficiency in GBE activity results in the accumulation of glycogen with fewer branching point ... Full text Link to item Cite

Increased alpha2 subunit-associated AMPK activity and PRKAG2 cardiomyopathy.

Journal Article Circulation · November 15, 2005 Featured Publication BACKGROUND: AMP-activated protein kinase (AMPK) regulatory gamma2 subunit (PRKAG2) mutations cause a human cardiomyopathy with cardiac hypertrophy, preexcitation, and glycogen deposition. PRKAG2 cardiomyopathy is recapitulated in transgenic mice overexpres ... Full text Link to item Cite

Amylopectinosis disease isolated to the heart with normal glycogen branching enzyme activity and gene sequence.

Journal Article Pediatr Transplant · April 2005 Featured Publication We report a 17-month-old female patient with a rare cause of cardiomyopathy secondary to accumulation of amylopectin-like material (fibrillar glycogen) isolated to the heart. Evidence of amylopectinosis isolated to cardiac myocytes in this patient was demo ... Full text Link to item Cite

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

Journal Article J Inherit Metab Dis · 2005 Featured Publication 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

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

Conference MOLECULAR GENETICS AND METABOLISM · March 2004 Link to item Cite

A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency.

Journal Article Clin Chim Acta · November 2003 BACKGROUND: Homozygosity and compound heterozygosity for the short chain acyl-CoA dehydrogenase (SCAD) gene sequence variants 625G-->A and 511C-->T are associated with ethylmalonic aciduria (EMA), a biochemical indicator of SCAD deficiency. The clinical an ... 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 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

Glycogen storage disease type I: diagnosis and phenotype/genotype correlation.

Journal Article Eur J Pediatr · October 2002 Featured Publication UNLABELLED: Glycogen storage disease type Ia (GSD Ia) is caused by mutations in the G6PC gene encoding the phosphatase of the microsomal glucose-6-phosphatase system. GSD Ia is characterized by hepatomegaly, hypoglycemia, lactic acidemia, hyperuricemia, hy ... Full text Link to item Cite

[Longitudinal melanic nail bands (melanonychia): report of 22 cases].

Journal Article Chir Main · July 2002 INTRODUCTION: Longitudinal melanonychia is a diagnostic and treatment problem for the surgeon. Fear of melanoma most frequently leads to total excision of nail bed, matrix and plate. METHOD: Twenty two patients, aged from 7 to 77, were operated on from 89 ... Full text Link to item Cite

Prenatal diagnosis in glycogen storage diseases.

Journal Article Prenat Diagn · May 2002 Featured Publication Full text Link to item Cite

Glycogen storage disease type I: Diagnosis and phenotype/genotype correlation

Conference European Journal of Pediatrics Supplement · January 1, 2002 Glycogen storage disease type Ia (GSD Ia) is caused by mutations in the G6PC gene encoding the phosphatase of the microsomal glucose-6-phosphatase system. GSD Ia is characterized by hepatomegaly, hypoglycemia, lactic acidemia, hyperuricemia, hyperlipidemia ... Full text Cite

Tissue expansion of the lower limb: complications in a cohort of 103 cases.

Journal Article Br J Plast Surg · June 2001 Over 10 years we performed 103 skin-expansion procedures and placed 207 prostheses on lower limbs, using the same surgical protocol. In 83 cases (80.6%) the expansion was achieved without complications. We recorded 20 complications in all (19.4%). Major co ... Full text Link to item Cite

Genetic analysis of multiplex rheumatoid arthritis families.

Journal Article Genes Immun · September 1999 To examine the genetic contribution of HLA and non-HLA genes in the etiopathogenesis of rheumatoid arthritis (RA), 60 Caucasian multiplex families were identified and DNA analyzed for over 52 markers including DRB1, DQA1 and DQB1 alleles. Many of the marke ... Full text Link to item Cite

Familial antiphospholipid antibody syndrome: criteria for disease and evidence for autosomal dominant inheritance.

Journal Article Arthritis Rheum · February 1999 OBJECTIVE: To develop diagnostic criteria for a familial form of antiphospholipid antibody syndrome (APS), identify families with >1 affected member, examine possible modes of inheritance, and determine linkage to potential candidate genes. METHODS: Family ... Full text Link to item Cite

Discordant organ laterality in monozygotic twins with primary ciliary dyskinesia.

Journal Article Am J Med Genet · January 15, 1999 Primary ciliary dyskinesia (PCD) is a genetic disease characterized by abnormal ciliary structure and function, impaired mucociliary clearance, and chronic middle ear, sinus, and lung disease. PCD is associated with situs inversus in approximately 50% of t ... Full text Link to item Cite

Fine mapping of a genetic locus for Peutz-Jeghers syndrome on chromosome 19p.

Conference AMERICAN JOURNAL OF HUMAN GENETICS · October 1997 Link to item Cite

Fine mapping of a genetic locus for Peutz-Jeghers syndrome on chromosome 19p.

Journal Article Cancer Res · September 1, 1997 Peutz-Jeghers syndrome (PJS) was recently mapped in a single report to the telomeric region of chromosome 19p (A. Hemminki et al., Nat. Genet., 15: 87-90, 1997). Our studies confirm this location and provide further localization of the PJS locus. In the fi ... Link to item Cite

Genetic analysis of multiplex rheumatoid arthritis families.

Journal Article ARTHRITIS AND RHEUMATISM · September 1, 1996 Link to item Cite

PEUTZ-JEGHERS SYNDROME MAPS TO CHROMOSOME 1P

Conference AMERICAN JOURNAL OF HUMAN GENETICS · October 1995 Link to item Cite

Animal model for maturity-onset diabetes of the young generated by disruption of the mouse glucokinase gene.

Journal Article J Biol Chem · September 15, 1995 Glucokinase catalyzes a rate-limiting step in glucose metabolism in hepatocytes and pancreatic beta cells and is considered the "glucose sensor" for regulation of insulin secretion. Patients with maturity-onset diabetes of the young (MODY) have heterozygou ... Full text Link to item Cite

In vitro and in vivo genotoxicity evaluation of hormonal drugs. II. Dexamethasone.

Journal Article Mutat Res · July 1, 1994 Genotoxicity evaluation of a widely used glucocorticoid medicine, dexamethasone, was undertaken using in vitro and in vivo assays. Analyses of chromosomal aberrations, sister-chromatid exchanges (SCEs) in human lymphocytes and micronuclei and SCEs in mouse ... Full text Link to item Cite

Selective loss of a DNase I hypersensitive site upstream of the tyrosine aminotransferase gene in mice homozygous for lethal albino deletions.

Journal Article Proc Natl Acad Sci U S A · July 15, 1992 Several overlapping chromosomal deletions spanning the albino locus in the mouse cause perinatal lethality when homozygous and a block in the transcriptional induction of various unlinked hepatocyte-specific genes. Studies of such lethal albino deletion ho ... Full text Link to item Cite

Regulatory genes linked to the albino locus in the mouse confer competence for inducible expression on the structural gene encoding serine dehydratase.

Journal Article Proc Natl Acad Sci U S A · March 15, 1992 A cluster of unlinked genes encoding gluconeogenic enzymes in the mouse is characterized by the failure of normal hormone-inducible expression in animals homozygous for one of several overlapping deletions mapping on chromosome 7 near the albino locus. Pre ... Full text Link to item Cite

The glucocorticoid hormone signal transduction pathway in mice homozygous for chromosomal deletions causing failure of cell type-specific inducible gene expression.

Journal Article Proc Natl Acad Sci U S A · July 1, 1991 Wild-type newborn mice are characterized by the ability of certain liver-specific genes encoding various enzymes and mapping on different chromosomes to respond to glucocorticoid induction. Newborn mice homozygous for deletions at and around the albino loc ... Full text Link to item Cite

In vitro and in vivo genotoxicity evaluation of hormonal drugs. I. Hydrocortisone.

Journal Article Environ Mol Mutagen · 1990 Genotoxic evaluation of a widely used glucocorticoid, hydrocortisone, was undertaken using a battery of in vitro and in vivo test systems. Human lymphocyte cultures and mouse bone marrow studies (micronuclei and sister chromatid exchange analyses) showed t ... Full text Link to item Cite