Glycogen Storage Disease

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  Subject Areas on Research

  • Adeno-associated virus-mediated gene therapy for metabolic myopathy. 
  • Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for a patient presenting with a PRKAG2 mutation. 
  • Benign or not benign? Deep phenotyping of liver Glycogen Storage Disease IX. 
  • Centronuclear myopathy: histochemistry and electron microscopy. Report of two cases. 
  • Characterization of liver GSD IX γ2 pathophysiology in a novel Phkg2-/- mouse model. 
  • Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource. 
  • 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). 
  • Gene therapy for glycogen storage diseases. 
  • Glycogen debranching enzyme: purification, antibody characterization, and immunoblot analyses of type III glycogen storage disease. 
  • Glycogen storage disease type IX: novel PHKA2 missense mutation and cirrhosis. 
  • Glycogen storage diseases presenting as hypertrophic cardiomyopathy. 
  • Glycogenic Hepatopathy Causing Elevated Lactic Acid and Liver Enzymes. 
  • Glycogenosis is common in nonalcoholic fatty liver disease and is independently associated with ballooning, but lower steatosis and lower fibrosis. 
  • Hepatic storage of glycogen in Niemann-Pick disease type B. 
  • Hepatocellular carcinoma occurring in a patient with Crohn's disease treated with both azathioprine and infliximab. 
  • Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III. 
  • Large animal models and new therapies for glycogen storage disease. 
  • Late-onset Mcardle's disease with unusual electromyographic findings. 
  • Links between autophagy and disorders of glycogen metabolism - Perspectives on pathogenesis and possible treatments. 
  • Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring. 
  • Preclinical Development of New Therapy for Glycogen Storage Diseases. 
  • Prenatal diagnosis in glycogen storage diseases. 
  • Response to Heiner-Fokkema et al. 
  • Role of continuous glucose monitoring in the management of glycogen storage disorders. 
  • The bleeding diathesis in human glycogen storage disease type I: in vitro identification of a naturally occurring inhibitor of ristocetin-induced platelet aggregation. 
  • The polymorphic locus for glycogen storage disease VI (liver glycogen phosphorylase) maps to chromosome 14. 
  • Ultrastructure of the eye in fetal type II glycogenosis (Pompe's disease). 
  • Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene. 
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  Keywords of People

  • El-Gharbawy, Areeg Hassan, Associate Professor of Pediatrics, Pediatrics, Medical Genetics