[PNP (purine nucleoside phosphorylase) deficiency].
Taniguchi
Atsuo
A
Institute of Rheumatology, Tokyo Women's Medical University.
D003848:Deoxyguanine Nucleotides / Q000378:metabolism; D003937:Diagnosis, Differential; D006801:Humans; D007154:Immune System Diseases / Q000209:etiology; D009154:Mutation; D011379:Prognosis; D011683:Purine-Nucleoside Phosphorylase / Q000172:deficiency* / Q000235:genetics; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000175:diagnosis / Q000209:etiology / Q000628:therapy; D013601:T-Lymphocytes / Q000378:metabolism; D014527:Uric Acid / Q000097:blood*
D003848:Deoxyguanine Nucleotides; D014527:Uric Acid; C029603:deoxyguanosine triphosphate; D011683:Purine-Nucleoside Phosphorylase