title: Biochemistry and molecular genetics of human glycogenoses: an overview.
authors.affiliation: H. Houston Merritt Clinical Research Center for Muscular Dystrophy, Columbia-Presbyterian Medical Center, New York, New York, USA.
authors.forename: S
authors.initials: S
authors.lastname: DiMauro
authors.forename: S
authors.initials: S
authors.lastname: Tsujino
authors.forename: S
authors.initials: S
authors.lastname: Shanske
authors.forename: L P
authors.initials: LP
authors.lastname: Rowland
mesh_terms: D001483:Base Sequence; D001927:Brain Diseases / Q000378:metabolism; D006004:Glycogen Debranching Enzyme System / Q000378:metabolism; D006008:Glycogen Storage Disease / Q000201:enzymology* / Q000235:genetics*; D006331:Heart Diseases / Q000235:genetics / Q000378:metabolism; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009135:Muscular Diseases / Q000201:enzymology / Q000235:genetics; D009154:Mutation; D009468:Neuromuscular Diseases / Q000201:enzymology; D006005:Phosphorylases / Q000172:deficiency / Q000235:genetics
chemical_list: D006004:Glycogen Debranching Enzyme System; D006005:Phosphorylases