Purine metabolism and immunodeficiency: urinary purine excretion as a diagnostic screening test in adenosine deaminase and purine nucleoside phosphorylase deficiency.
D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency*; D000243:Adenosine Deaminase / Q000172:deficiency*; D002648:Child; D002852:Chromatography, Ion Exchange; D004586:Electrophoresis; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis* / Q000652:urine; D009700:Nucleoside Deaminases / Q000172:deficiency*; D010430:Pentosyltransferases / Q000172:deficiency*; D011683:Purine-Nucleoside Phosphorylase / Q000172:deficiency*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000175:diagnosis* / Q000201:enzymology / Q000652:urine; D011687:Purines / Q000652:urine*
D011687:Purines; D010430:Pentosyltransferases; D011683:Purine-Nucleoside Phosphorylase; D000228:Adenine Phosphoribosyltransferase; D009700:Nucleoside Deaminases; D000243:Adenosine Deaminase