Hereditary xanthinuria presenting in infancy with nephrolithiasis.
D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007669:Kidney Calculi / Q000209:etiology*; D008297:Male; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000150:complications / Q000235:genetics* / Q000652:urine; D019820:Xanthine; D014969:Xanthine Oxidase / Q000172:deficiency*; D014970:Xanthines / Q000652:urine*
D014970:Xanthines; D019820:Xanthine; D014969:Xanthine Oxidase