Adenine phosphoribosyltransferase deficiency presenting with supposed 'uric acid' stones: pitfalls of diagnosis.
D000225:Adenine / Q000031:analogs & derivatives / Q000032:analysis; D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D007669:Kidney Calculi / Q000175:diagnosis; D010430:Pentosyltransferases / Q000172:deficiency*; D014514:Ureteral Calculi / Q000175:diagnosis; D014527:Uric Acid / Q000032:analysis; D014545:Urinary Calculi / Q000175:diagnosis*
D014527:Uric Acid; D010430:Pentosyltransferases; D000228:Adenine Phosphoribosyltransferase; D000225:Adenine