Purine nucleoside phosphorylase (PNP) deficiency: a therapeutic challenge.
D001402:B-Lymphocytes / Q000276:immunology; D003841:Deoxycytidine / Q000627:therapeutic use*; D004912:Erythrocytes / Q000378:metabolism; D005500:Follow-Up Studies; D006147:Guanine / Q000627:therapeutic use*; D006801:Humans; D007231:Infant, Newborn; D008213:Lymphocyte Activation; D008297:Male; D010430:Pentosyltransferases / Q000172:deficiency*; D011683:Purine-Nucleoside Phosphorylase / Q000172:deficiency*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000175:diagnosis / Q000628:therapy*; D012265:Ribonucleotides / Q000097:blood; D013601:T-Lymphocytes / Q000276:immunology; D013767:Tetrahydrouridine / Q000627:therapeutic use*; D014529:Uridine / Q000031:analogs & derivatives*
D012265:Ribonucleotides; D003841:Deoxycytidine; D013767:Tetrahydrouridine; D006147:Guanine; D010430:Pentosyltransferases; D011683:Purine-Nucleoside Phosphorylase; D014529:Uridine