title: Complete adenine phosphoribosyltransferase (APRT) deficiency in two siblings: report of a new case.
mesh_terms: D000225:Adenine / Q000031:analogs & derivatives / Q000032:analysis; D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency*; D000493:Allopurinol / Q000627:therapeutic use; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007669:Kidney Calculi / Q000188:drug therapy / Q000201:enzymology*; D008297:Male; D010375:Pedigree; D010430:Pentosyltransferases / Q000172:deficiency*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000201:enzymology* / Q000235:genetics; D012016:Reference Values; D013053:Spectrophotometry
chemical_list: C002993:2,8-dihydroxyadenine; D000493:Allopurinol; D010430:Pentosyltransferases; D000228:Adenine Phosphoribosyltransferase; D000225:Adenine