Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R)
Burwinkel
B
B
Tanner
M S
MS
Kilimann
M W
MW
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*
D006003:Glycogen; D010764:Phosphorylase Kinase