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Results 1 - 10 of 13 for Glycogen storage "disease," type V
  1. 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 ...
  2. Type V (five) glycogen storage disease (GSD V) is a rare inherited condition in which the body is not able to break ... Disease Disorders -- rarediseases.info.nih.gov/diseases/6528/glycogen-storage-disease-type-5
  3. Carbohydrate Metabolism Disorders (National Library of Medicine)  
    Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive ...
  4. ... 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 ...
  5. ... 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( ...
  6. ... 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( ...
  7. ... M, Burgess A, Wolfsdorf JI. Glycogen synthase deficiency (glycogen storage ... Cameron JM, Levandovskiy V, MacKay N, Utgikar R, Ackerley C, Chiasson D, ...
  8. ... 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 ...
  9. ... glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease. ... PT, Gajdos V, Labrune P. Glucose-6-phosphatase deficiency. Orphanet J ...
  10. ... 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 ...
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