title: Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R)
authors.forename: B
authors.initials: B
authors.lastname: Burwinkel
authors.forename: M S
authors.initials: MS
authors.lastname: Tanner
authors.forename: M W
authors.initials: MW
authors.lastname: Kilimann
mesh_terms: D018450:Disease Progression; D006003:Glycogen / Q000378:metabolism*; D006008:Glycogen Storage Disease / Q000235:genetics* / Q000473:pathology; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008103:Liver Cirrhosis / Q000235:genetics* / Q000473:pathology; D008297:Male; D009154:Mutation; D010764:Phosphorylase Kinase / Q000172:deficiency / Q000235:genetics*
chemical_list: D006003:Glycogen; D010764:Phosphorylase Kinase