title: [Hypoxanthine-guanine phosphoribosyltransferase deficiency].
authors.affiliation: Division of Inherited Metabolic Diseases, National Institute of Neuroscience, National Center of Neurology and Psychiatry.
authors.forename: Y
authors.initials: Y
authors.lastname: Arai
authors.forename: N
authors.initials: N
authors.lastname: Sakuragawa
mesh_terms: D003937:Diagnosis, Differential; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency* / Q000235:genetics; D007926:Lesch-Nyhan Syndrome / Q000209:etiology / Q000503:physiopathology; D009154:Mutation; D011379:Prognosis
chemical_list: D007041:Hypoxanthine Phosphoribosyltransferase