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