title: Abnormal purine and pyrimidine metabolism in inherited superactivity of PRPP synthetase.
authors.affiliation: Laboratoire d'Etude des Maladies Métaboliques, Hopital Debrousse, Lyon, France.
authors.forename: C
authors.initials: C
authors.lastname: Bory
authors.forename: C
authors.initials: C
authors.lastname: Chantin
authors.forename: R
authors.initials: R
authors.lastname: Boulieu
mesh_terms: D000227:Adenine Nucleotides / Q000097:blood; D000493:Allopurinol; D002648:Child; D004912:Erythrocytes / Q000378:metabolism*; D005260:Female; D006150:Guanine Nucleotides / Q000097:blood; D006801:Humans; D019271:Hypoxanthine; D007042:Hypoxanthines / Q000097:blood / Q000652:urine; D007288:Inosine / Q000097:blood; D008297:Male; D009243:NAD / Q000097:blood; D009679:Nuclear Family; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000188:drug therapy / Q000201:enzymology* / Q000378:metabolism; D012016:Reference Values; D012265:Ribonucleotides / Q000097:blood*; D012268:Ribose-Phosphate Pyrophosphokinase / Q000097:blood / Q000378:metabolism* / Q000652:urine; D014527:Uric Acid / Q000097:blood / Q000652:urine; D014529:Uridine / Q000097:blood; D014532:Uridine Diphosphate Glucose / Q000097:blood; D019820:Xanthine; D014970:Xanthines / Q000097:blood / Q000652:urine
chemical_list: D000227:Adenine Nucleotides; D006150:Guanine Nucleotides; D007042:Hypoxanthines; D012265:Ribonucleotides; D014970:Xanthines; D009243:NAD; D019820:Xanthine; D014527:Uric Acid; D019271:Hypoxanthine; D007288:Inosine; D000493:Allopurinol; D012268:Ribose-Phosphate Pyrophosphokinase; D014532:Uridine Diphosphate Glucose; D014529:Uridine