title: [PRPP synthetase deficiency].
authors.affiliation: Department of Pediatrics, Nagoya City Johoku Hospital.
authors.forename: H
authors.initials: H
authors.lastname: Imaeda
authors.forename: Y
authors.initials: Y
authors.lastname: Wada
mesh_terms: D003937:Diagnosis, Differential; D006801:Humans; D010754:Phosphoribosyl Pyrophosphate / Q000378:metabolism; D011379:Prognosis; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000175:diagnosis / Q000209:etiology / Q000503:physiopathology; D012268:Ribose-Phosphate Pyrophosphokinase / Q000172:deficiency*
chemical_list: D010754:Phosphoribosyl Pyrophosphate; D012268:Ribose-Phosphate Pyrophosphokinase