Phosphorylase b kinase deficiency in glycogenosis type VIII: differentiation of different phenotypes and heterozygotes by erythrocyte enzyme assay.
D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D006008:Glycogen Storage Disease / Q000235:genetics*; D006015:Glycogen Storage Disease Type VIII / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D008297:Male; D010641:Phenotype; D010764:Phosphorylase Kinase / Q000097:blood / Q000172:deficiency*; D014960:X Chromosome
D010764:Phosphorylase Kinase