title: Molecular and biochemical basis for variants and deficiency of GALT: report of 4 novel mutations.
authors.affiliation: University Children's Hospital, Munich, Germany.
authors.forename: Y S
authors.initials: YS
authors.lastname: Shin
authors.forename: T
authors.initials: T
authors.lastname: Podskarbi
mesh_terms: D005693:Galactosemias / Q000235:genetics*; D006801:Humans; D009154:Mutation; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000235:genetics*
chemical_list: D005694:UTP-Hexose-1-Phosphate Uridylyltransferase