title: [Uncommon purine lithiasis: adenine phosphoribosyltransferase (APRT) deficiency and hereditary xanthinuria].
authors.affiliation: Servicio de Bioquímica, Area de Diagnóstico Biológico, Hospital de la Ribera, Alzira, Valencia, España. jaorts@hospital-ribera.com
authors.forename: Juan Antonio
authors.initials: JA
authors.lastname: Orts Costa
authors.forename: Angel
authors.initials: A
authors.lastname: Zúñiga Cabrera
authors.forename: Susana
authors.initials: S
authors.lastname: Ferrando Monleón
mesh_terms: D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency* / Q000235:genetics; D015971:Gene Expression Regulation, Enzymologic; D005838:Genotype; D006801:Humans; D020347:Lithiasis / Q000175:diagnosis / Q000201:enzymology / Q000209:etiology*; D010641:Phenotype; D014968:Xanthine Dehydrogenase / Q000172:deficiency* / Q000235:genetics
chemical_list: D014968:Xanthine Dehydrogenase; D000228:Adenine Phosphoribosyltransferase