title: [HPRT deficiency].
authors.affiliation: Second Department of Internal Medicine, Teikyo University School of Medicine.
authors.forename: S
authors.initials: S
authors.lastname: Fujimori
authors.forename: T
authors.initials: T
authors.lastname: Yamanouchi
authors.forename: I
authors.initials: I
authors.lastname: Akaoka
mesh_terms: D001483:Base Sequence; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency*; D007926:Lesch-Nyhan Syndrome / Q000201:enzymology; D008969:Molecular Sequence Data; D014527:Uric Acid / Q000097:blood
chemical_list: D014527:Uric Acid; D007041:Hypoxanthine Phosphoribosyltransferase