title: [Galactose-1-phosphate uridyltransferase deficiency].
authors.affiliation: Department of Pediatrics, Osaka City University Medical School.
authors.forename: Y
authors.initials: Y
authors.lastname: Okano
authors.forename: G
authors.initials: G
authors.lastname: Isshiki
mesh_terms: D002239:Carbohydrate Metabolism, Inborn Errors; D000075202:Contraindications; D003937:Diagnosis, Differential; D005260:Female; D005690:Galactose / Q000378:metabolism*; D005693:Galactosemias / Q000175:diagnosis / Q000209:etiology* / Q000378:metabolism; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D015997:Neonatal Screening / Q000379:methods; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011379:Prognosis; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000172:deficiency* / Q000235:genetics
chemical_list: D005694:UTP-Hexose-1-Phosphate Uridylyltransferase; D005690:Galactose