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Results 1 - 10 of 16 for Glycogen storage "disease," type I
  1. GAA gene 
    ... glucosidase, alpha; acid glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II) LYAG LYAG_HUMAN lysosomal alpha-glucosidase Tests ... gene in 40 Italian patients with late onset glycogen storage disease type II. Hum Mutat. 2006 Oct;27(10):999- ...
    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 building ... Sharrard MJ. High frequency of missense mutations in glycogen storage disease type VI. J Inherit Metab Dis. 2007 Oct;30( ...
    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. Most ... M, Burgess A, Wolfsdorf JI. Glycogen synthase deficiency (glycogen storage disease type 0) presenting with hyperglycemia and glucosuria: report of ...
    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 single ... Seydewitz HH, Bali D, Lang C, Chen YT. Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. Eur J ...
    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). Most ... mutations in the glycogen debranching enzyme found in glycogen storage disease type III lead to impairment in diverse cellular functions. ...
    https://medlineplus.gov/genetics/gene/agl - Genetics
  6. G6PC gene 
    ... the G6PC gene have been found to cause glycogen storage disease type Ia (GSDIa). Most of these mutations change single ... Seydewitz HH, Bali D, Lang C, Chen YT. Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. Eur J ...
    https://medlineplus.gov/genetics/gene/g6pc - Genetics
  7. GYS1 gene 
    ... have been found to cause a form of glycogen storage disease type 0 (GSD 0) that affects cardiac and skeletal muscle. Most GYS1 gene mutations that cause this condition lead to a lack of functional muscle glycogen synthase, resulting in a complete absence of glycogen ...
    https://medlineplus.gov/genetics/gene/gys1 - Genetics
  8. 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
  9. PYGM gene 
    ... the PYGM gene have been found to cause glycogen storage disease type V (GSDV). One mutation that is common in North American and European populations is written as Arg50Ter or R50X. This ... of glycogen. Other mutations that cause GSDV may severely reduce ...
    https://medlineplus.gov/genetics/gene/pygm - Genetics
  10. GBE1 gene 
    ... the GBE1 gene have been found to cause glycogen storage disease type IV (GSD IV). This disorder is characterized by ... Moses SW, Parvari R. The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular ...
    https://medlineplus.gov/genetics/gene/gbe1 - Genetics
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