Glycogen storage disease type IX
Definition:
References:
-
[1]. B Burwinkel, et al. Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB). Hum Mol Genet. 1997 Jul;6(7):1109-15. [Content Brief]
[2]. B Burwinkel, et al. Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis. Hum Mol Genet. 1998 Jan;7(1):149-54. [Content Brief]
[3]. B Burwinkel, et al. Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2). Hum Mol Genet. 1996 May;5(5):653-8. [Content Brief]
[4]. Deeksha S Bali, et al. Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene. Mol Genet Metab. 2014 Mar;111(3):309-313. [Content Brief]
[5]. M Wehner, et al. Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit. Hum Mol Genet. 1994 Nov;3(11):1983-7. [Content Brief]
[6]. Nicholas James Beauchamp, et al. Glycogen storage disease type IX: High variability in clinical phenotype. Mol Genet Metab. 2007 Sep-Oct;92(1-2):88-99. [Content Brief]
Molarity Calculator
Dilution Calculator
