[PRPP synthetase deficiency].
Kawasugi
Kaname
K
Department of Allergy and Rheumatology, University of Tokyo Graduate School of Medicine.
Takeuchi
Fujio
F
D003937:Diagnosis, Differential; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D011379:Prognosis; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000175:diagnosis / Q000209:etiology / Q000503:physiopathology; D012268:Ribose-Phosphate Pyrophosphokinase / Q000172:deficiency*; D014527:Uric Acid / Q000097:blood*
D014527:Uric Acid; D012268:Ribose-Phosphate Pyrophosphokinase