Article
A novel mutation in a patient with familial renal hypouricemia type 2.
Nefrologia - 1 Jan 2000
Kaynar Kubra, Güvercin Beyhan, Şahin Mustafa, Turan Nilay, Açíkyürek Ferhat
Abstract excerpt
INTRODUCTION: Hypouricemia may be caused by disorders leading to decreased UA production, oxidation of UA to allantoin by drugs or increased renal tubular loss of filtered UA, renal hypouricemia (RHUC). RHUC may be resulted from familial or acquired disorders. Familial RHUC cases are classified according to the gene affected as type 1 (SLC22A12 gene) and type 2 (SLC2A9). Clinical importance of RHUC entity is...
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