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Results 1 - 10 of 12 for Glycogen storage "disease," type V
  1. Glycogen storage disease type V 
    Glycogen storage disease type V (also known as GSDV or McArdle disease) is an inherited disorder caused by an inability to break down a complex sugar called glycogen ...
    https://medlineplus.gov/.../glycogen-storage-disease-type-v - Genetics
  2. 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 mutation ... of glycogen. Other mutations that cause GSDV may severely reduce ...
    https://medlineplus.gov/genetics/gene/pygm - Genetics
  3. Glycogen storage disease type VI 
    ... PubMed Beauchamp NJ, Taybert J, Champion MP, Layet V, Heinz-Erian P, Dalton A, Tanner MS, Pronicka E, Sharrard MJ. High frequency of missense mutations in glycogen storage disease type VI. J Inherit Metab Dis. 2007 Oct;30( ...
    https://medlineplus.gov/.../glycogen-storage-disease-type-vi - Genetics
  4. PYGL gene 
    ... ClinVar Beauchamp NJ, Taybert J, Champion MP, Layet V, Heinz-Erian P, Dalton A, Tanner MS, Pronicka E, 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
  5. Glycogen storage disease type 0 
    ... M, Burgess A, Wolfsdorf JI. Glycogen synthase deficiency (glycogen storage ... Cameron JM, Levandovskiy V, MacKay N, Utgikar R, Ackerley C, Chiasson D, ...
    https://medlineplus.gov/.../glycogen-storage-disease-type-0 - Genetics
  6. Glycogen storage disease type IV 
    ... Chen YT. Non-lethal congenital hypotonia due to glycogen storage disease type IV. Am J Med Genet A. 2006 Apr 15;140(8):878-82. doi: 10.1002/ajmg.a.31166. Citation on PubMed Fernandez C, Halbert C, De Paula AM, Lacroze V, Froissart R, Figarella-Branger D, Chabrol B, Pellissier ...
    https://medlineplus.gov/.../glycogen-storage-disease-type-iv - Genetics
  7. Glycogen storage disease type I 
    ... glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease. ... PT, Gajdos V, Labrune P. Glucose-6-phosphatase deficiency. Orphanet J ...
    https://medlineplus.gov/.../glycogen-storage-disease-type-i - Genetics
  8. GBE1 gene 
    ... C, Durr A, Brice A, Rosenmann H, Barash V, Kakhlon O, Gomori JM, van der Knaap MS, ... storage disease type IV: a review of clinical, enzymatic and molecular ...
    https://medlineplus.gov/genetics/gene/gbe1 - Genetics
  9. Danon disease 
    ... linked traits to their children with Y chromosomes. Glycogen storage disease type 2B Glycogen storage disease type IIb Lysosomal glycogen storage disease with normal acid ...
    https://medlineplus.gov/genetics/condition/danon-disease - Genetics
  10. 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
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