Glycogen Storage Disease Type I

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  Subject Areas on Research

  • 2002 E. Mead Johnson Award for Research in Pediatrics Lecture: the molecular biology of the anemia of chronic disease: a hypothesis. 
  • A Liver-Specific Thyromimetic, VK2809, Decreases Hepatosteatosis in Glycogen Storage Disease Type Ia. 
  • A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic. 
  • A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single-center study and the generation of www.emergencyprotocol.net. 
  • AAV vector-mediated reversal of hypoglycemia in canine and murine glycogen storage disease type Ia. 
  • Absence of the SRC-2 coactivator results in a glycogenopathy resembling Von Gierke's disease. 
  • Activation of glycolysis and apoptosis in glycogen storage disease type Ia. 
  • Amelioration of proximal renal tubular dysfunction in type I glycogen storage disease with dietary therapy. 
  • Bezafibrate induces autophagy and improves hepatic lipid metabolism in glycogen storage disease type Ia. 
  • Brain abscess in glycogen storage disease type Ib. 
  • Canine model and genomic structural organization of glycogen storage disease type Ia (GSD Ia). 
  • Challenges in screening for hepatocellular carcinoma in the glycogen storage disease type 1a population. 
  • Characterization and pathogenesis of anemia in glycogen storage disease type Ia and Ib. 
  • Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage disease. 
  • Cornstarch therapy in type I glycogen-storage disease. 
  • Delivery of glucose-6-phosphatase in a canine model for glycogen storage disease, type Ia, with adeno-associated virus (AAV) vectors. 
  • Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics. 
  • Early, sustained efficacy of adeno-associated virus vector-mediated gene therapy in glycogen storage disease type Ia. 
  • Efficacy of helper-dependent adenovirus vector-mediated gene therapy in murine glycogen storage disease type Ia. 
  • Emerging therapies for glycogen storage disease type I. 
  • Fenofibrate rapidly decreases hepatic lipid and glycogen storage in neonatal mice with glycogen storage disease type Ia. 
  • Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus. 
  • Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype. 
  • Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. 
  • Glycogen storage disease type Ia in two littermate Maltese puppies. 
  • Glycogen storage disease types I and II: treatment updates. 
  • Hepatic adenoma: MR characteristics and correlation with pathologic findings. 
  • Hepatic mitochondrial dysfunction is a feature of Glycogen Storage Disease Type Ia (GSDIa). 
  • Hepatocellular carcinoma in glycogen storage disease type Ia: a case series. 
  • Hepatorenal correction in murine glycogen storage disease type I with a double-stranded adeno-associated virus vector. 
  • Hyperglycaemia associated with lactic acidaemia in a renal allograft recipient with type I glycogen storage disease. 
  • Hypovitaminosis D in glycogen storage disease type I. 
  • Identification of differentially expressed microRNAs in human hepatocellular adenoma associated with type I glycogen storage disease: a potential utility as biomarkers. 
  • In Vivo Zinc Finger Nuclease-mediated Targeted Integration of a Glucose-6-phosphatase Transgene Promotes Survival in Mice With Glycogen Storage Disease Type IA. 
  • In search of proof-of-concept: gene therapy for glycogen storage disease type Ia. 
  • Inappropriate expression of hepcidin is associated with iron refractory anemia: implications for the anemia of chronic disease. 
  • Induction of autophagy improves hepatic lipid metabolism in glucose-6-phosphatase deficiency. 
  • Infectious and bleeding complications in patients with glycogenosis Ib. 
  • Isolation and nucleotide sequence of canine glucose-6-phosphatase mRNA: identification of mutation in puppies with glycogen storage disease type Ia. 
  • Letter to the Editors: Concerning "Long-term safety and efficacy of AAV gene therapy in the canine model of glycogen storage disease type Ia" by Lee et al. 
  • 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. 
  • Liver transplantation for glycogen storage disease type Ia. 
  • Liver transplantation for glycogen storage disease types I, III, and IV. 
  • Liver-specific glucose-6-phosphatase is not present in human placenta. 
  • Long-term complications of glycogen storage disease type Ia in the canine model treated with gene replacement therapy. 
  • Long-term efficacy following readministration of an adeno-associated virus vector in dogs with glycogen storage disease type Ia. 
  • Menorrhagia in patients with type I glycogen storage disease. 
  • Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c. 
  • Neutropenia in glycogen storage disease Ib: outcomes for patients treated with granulocyte colony-stimulating factor. 
  • New lessons in the regulation of glucose metabolism taught by the glucose 6-phosphatase system. 
  • Nutritional deficiencies in a patient with glycogen storage disease type Ib. 
  • Oropharyngeal dysphagia in infants and children with infantile Pompe disease. 
  • Pathogenesis of growth failure and partial reversal with gene therapy in murine and canine Glycogen Storage Disease type Ia. 
  • Preclinical Development of New Therapy for Glycogen Storage Diseases. 
  • Prenatal diagnosis in glycogen storage diseases. 
  • Prolongation of normoglycemia in patients with type I glycogen storage disease. 
  • Pulmonary hypertension in glycogen storage disease type I. 
  • Recombinant human granulocyte colony-stimulating factor therapy for patients with neutropenia and/or neutrophil dysfunction secondary to glycogen storage disease type 1b. 
  • Renal disease in type 1 glycogen storage disease. 
  • Renal disease in type I glycogen storage disease. 
  • Renal endoplasmic reticulum stress is coupled to impaired autophagy in a mouse model of GSD Ia. 
  • Renal involvement in type I glycogen storage disease. 
  • Rescue administration of a helper-dependent adenovirus vector with long-term efficacy in dogs with glycogen storage disease type Ia. 
  • Resection of hepatocellular adenoma in patients with glycogen storage disease type Ia. 
  • Stone forming risk factors in patients with type Ia glycogen storage disease. 
  • The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a. 
  • The role of raw starches in the treatment of type I glycogenosis. 
  • The upstream enhancer elements of the G6PC promoter are critical for optimal G6PC expression in murine glycogen storage disease type Ia. 
  • Type I glycogen storage disease: kidney involvement, pathogenesis and its treatment. 
  • Type I glycogen storage disease: nine years of management with cornstarch. 
  • Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex. 
  • Variability of renal length in type I glycogen storage disease. 
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  Keywords of People

  • Freemark, Michael Scott, Robert C. Atkins, M.D. and Veronica Atkins Distinguished Professor of Pediatrics, in the School of Medicine, Pediatrics, Endocrinology
  • Preminger, Glenn Michael, James F. Glenn, M.D. Distinguished Professor of Urology, Surgery, Urology