[Uncommon purine lithiasis: adenine phosphoribosyltransferase (APRT) deficiency and hereditary xanthinuria].
Orts Costa
Juan Antonio
JA
Servicio de Bioquímica, Area de Diagnóstico Biológico, Hospital de la Ribera, Alzira, Valencia, España. jaorts@hospital-ribera.com
Zúñiga Cabrera
Angel
A
Ferrando Monleón
Susana
S
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
D014968:Xanthine Dehydrogenase; D000228:Adenine Phosphoribosyltransferase