title: Molecular basis of galactose-1-phosphate uridyltransferase deficiency involving skeletal muscle.
authors.affiliation: Istituto di Chimica Biologica G. Fornaini, Università di Urbino, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Ninfali
authors.forename: N
authors.initials: N
authors.lastname: Bresolin
authors.forename: B
authors.initials: B
authors.lastname: Dallapiccola
authors.forename: G
authors.initials: G
authors.lastname: Novelli
mesh_terms: D000483:Alleles; D002648:Child; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000201:enzymology*; D009154:Mutation; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000172:deficiency* / Q000235:genetics
chemical_list: D005694:UTP-Hexose-1-Phosphate Uridylyltransferase