Glycogen-storage disease associated with phosphorylase kinase deficiency: evidence for X inactivation.
D002999:Clone Cells; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005696:Galactosidases / Q000378:metabolism; D006008:Glycogen Storage Disease / Q000201:enzymology / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000201:enzymology; D009154:Mutation; D010641:Phenotype; D010764:Phosphorylase Kinase / Q000378:metabolism*; D012730:Sex Chromosomes; D012867:Skin / Q000166:cytology
D010764:Phosphorylase Kinase; D005696:Galactosidases