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Results 1 - 10 of 16 for Glycogen storage disease
  1. GAA gene 
    ... glucosidase, alpha; acid glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II) LYAG LYAG_HUMAN lysosomal alpha-glucosidase ... gene in 40 Italian patients with late onset glycogen storage disease type II. Hum Mutat. 2006 Oct;27(10): ...
    https://medlineplus.gov/genetics/gene/gaa - Genetics
  2. PYGL gene 
    ... the PYGL gene have been found to cause glycogen storage disease type VI (GSDVI). Most mutations change single protein ... Sharrard MJ. High frequency of missense mutations in glycogen storage disease type VI. J Inherit Metab Dis. 2007 Oct; ...
    https://medlineplus.gov/genetics/gene/pygl - Genetics
  3. GYS2 gene 
    ... have been found to cause a form of glycogen storage disease type 0 (GSD 0) that affects the liver. ... M, Burgess A, Wolfsdorf JI. Glycogen synthase deficiency (glycogen storage disease type 0) presenting with hyperglycemia and glucosuria: report ...
    https://medlineplus.gov/genetics/gene/gys2 - Genetics
  4. SLC37A4 gene 
    ... the SLC37A4 gene have been found to cause glycogen storage disease type Ib (GSDIb). Most of these mutations change ... Jun HS, Mansfield BC. Neutropenia in type Ib glycogen storage disease. Curr Opin Hematol. 2010 Jan;17(1):36- ...
    https://medlineplus.gov/genetics/gene/slc37a4 - Genetics
  5. AGL gene 
    ... the AGL gene have been found to cause glycogen storage disease type III (also called GSDIII or Cori disease). ... mutations in the glycogen debranching enzyme found in glycogen storage disease type III lead to impairment in diverse cellular ...
    https://medlineplus.gov/genetics/gene/agl - Genetics
  6. GYS1 gene 
    ... have been found to cause a form of glycogen storage disease type 0 (GSD 0) that affects cardiac and ... Holme E. Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0. N Engl J Med. 2007 Oct 11; ...
    https://medlineplus.gov/genetics/gene/gys1 - Genetics
  7. G6PC1 gene 
    ... the G6PC1 gene have been found to cause glycogen storage disease type Ia (GSDIa). Most of these variants change ... phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease. Hum Mutat. 2008 Jul;29(7):921-30. ...
    https://medlineplus.gov/genetics/gene/g6pc1 - Genetics
  8. PRKAG2 gene 
    ... severe form of heart disease called lethal congenital glycogen storage disease of the heart. People with this mutation are ... non-catalytic subunit WPWS Tests of PRKAG2 PubMed GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL PROTEIN KINASE, AMP-ACTIVATED, ...
    https://medlineplus.gov/genetics/gene/prkag2 - Genetics
  9. GBE1 gene 
    ... the GBE1 gene have been found to cause glycogen storage disease type IV (GSD IV). This disorder is characterized ... Moses SW, Parvari R. The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and ...
    https://medlineplus.gov/genetics/gene/gbe1 - Genetics
  10. PFKM gene 
    ... the PFKM gene have been found to cause glycogen storage disease type VII (GSDVII). This condition is characterized by an inability to break down glycogen in muscle cells, resulting in muscle cramps and ...
    https://medlineplus.gov/genetics/gene/pfkm - Genetics
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