Glycogen Storage Disease Type III

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  Subject Areas on Research

  • A man with type III glycogenosis associated with cirrhosis and portal hypertension. 
  • A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa. 
  • A novel point mutation in an acceptor splice site of intron 32 (IVS32 A-12-->G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb. 
  • Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III. 
  • Bulbar muscle weakness and fatty lingual infiltration in glycogen storage disorder type IIIa. 
  • Characterization of a canine model of glycogen storage disease type IIIa. 
  • Correction of glycogen storage disease type III with rapamycin in a canine model. 
  • Definitive prenatal diagnosis for type III glycogen storage disease. 
  • Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations. 
  • Echocardiographic manifestations of Glycogen Storage Disease III: increase in wall thickness and left ventricular mass over time. 
  • Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease. 
  • Glycogen debranching enzyme deficiency: long-term study of serum enzyme activities and clinical features. 
  • Glycogen debranching enzyme: purification, antibody characterization, and immunoblot analyses of type III glycogen storage disease. 
  • Glycogen storage disease type III (glycogen debranching enzyme deficiency): correlation of biochemical defects with myopathy and cardiomyopathy. 
  • Glycogen storage disease type III diagnosis and management guidelines. 
  • Glycogen storage disease type III-hepatocellular carcinoma a long-term complication? 
  • Glycogen storage disease type IIIa in curly-coated retrievers. 
  • Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III. 
  • Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring. 
  • Liver transplantation for glycogen storage disease types I, III, and IV. 
  • Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III. 
  • Molecular characterization of glycogen storage disease type III. 
  • Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands. 
  • Mouse model of glycogen storage disease type III. 
  • Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle. 
  • Natural Progression of Canine Glycogen Storage Disease Type IIIa. 
  • Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa. 
  • 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. 
  • Polymorphic markers of the glycogen debranching enzyme gene allowing linkage analysis in families with glycogen storage disease type III. 
  • Prenatal diagnosis and carrier detection for glycogen storage disease type III using polymorphic DNA markers. 
  • RFLPs for linkage analysis in families with glycogen storage disease type III. 
  • Suppression of pullulanase-induced cytotoxic T cell response with a dual promoter in GSD IIIa mice. 
  • The electrodiagnostic characteristics of Glycogen Storage Disease Type III. 
  • Two new mutations in the 3' coding region of the glycogen debranching enzyme in a glycogen storage disease type IIIa Ashkenazi Jewish patient. 
  • Type III glycogen storage disease: an adult case with mild disease but complete absence of debrancher protein. 
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  Keywords of People

  • Case, Laura Elizabeth, Associate Professor in Orthopaedic Surgery, Pediatrics, Medical Genetics