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Results 1 - 8 of 8 for Glycogen phosphorylase kinase deficiency
  1. ... IX GSDIX PhK deficiency Phosphorylase b kinase deficiency Phosphorylase kinase deficiency Genetic Testing Registry: Glycogen storage disease IXa1 Genetic ...
  2. ... Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase ... Malingre HE, Boer MM, Berger R. Autosomal recessive phosphorylase kinase deficiency in liver, caused by mutations in the gene ...
  3. ... B, Akman HO, Dimauro S, Vissing J. Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease? Neurology. ... K, de Barsy T, Martin JJ. Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene. ...
  4. ... Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene. Mol ... Zaben A, Kilimann MW. Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis. ...
  5. ... gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2). Hum ...
  6. ... of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency. Am J Hum Genet. 2005 Jun;76(6): ...
  7. ... gene that makes an enzyme called muscle glycogen phosphorylase. As a ... this syndrome. A family history of GSD V increases the risk.
  8. Exercising with a Muscle Disease (Muscular Dystrophy Association) - PDF  
    Neuromuscular Disorders/Living With ... Neuromuscular Disorders ... Muscular Dystrophy Association ... PDF ... muscular dystrophy; exercise with a disability; neuromuscular ...