[Xanthinuria. New Report. Review of the literature].
Description a new case--the most precociously diagnosed in medical literature--of Xanthinuria, with the peculiarity of having débuted with cerebral haemorraging without lithiasis at any time. Metabolism of purines, characteristics of the disease in general and of the case concerned, and published cases are reviewed.
D002543:Cerebral Hemorrhage / Q000209:etiology; D005260:Female; D006417:Hematuria / Q000209:etiology; D006801:Humans; D006849:Hydrocephalus / Q000209:etiology; D007231:Infant, Newborn; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000150:complications / Q000378:metabolism; D011687:Purines / Q000378:metabolism; D014969:Xanthine Oxidase / Q000172:deficiency*; D014970:Xanthines / Q000652:urine
D011687:Purines; D014970:Xanthines; D014969:Xanthine Oxidase
Xantinuria. Nueva aportación. Revisión de la literatura.