[A new metabolic disease: the complete deficit of adenine phosphoribosyltransferase and lithiasis of 2,8-dihydroxyadenine].
D000225:Adenine / Q000031:analogs & derivatives* / Q000378:metabolism; D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency*; D002675:Child, Preschool; D006720:Homozygote; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase; D008297:Male; D010375:Pedigree; D010430:Pentosyltransferases / Q000172:deficiency*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors; D012995:Solubility; D014545:Urinary Calculi / Q000201:enzymology / Q000235:genetics*
D010430:Pentosyltransferases; D000228:Adenine Phosphoribosyltransferase; D007041:Hypoxanthine Phosphoribosyltransferase; D000225:Adenine
Une nouvelle maladie nétabolique: le déficit complete en adénine-phosphoribosyltransférase avec lithiase de 2,8-dihydroxyadénine