NEPHROLOGY DIALYSIS TRANSPLANTATION, vol.18, no.11, pp.2278-2283, 2003 (SCI-Expanded)
Article / Article
NEPHROLOGY DIALYSIS TRANSPLANTATION
Science Citation Index Expanded (SCI-EXPANDED), Scopus
Hacettepe University Affiliated:
Background. Classical xanthinuria is classified into two categories: type I, deficient only in xanthine dehydrogenase (XDH) activity; and type II, deficient in both XDH and aldehyde oxidase. Both types present mainly with renal stones and lead to renal failure in some cases. We studied the molecular basis of xanthinuria in a Turkish family with two affected siblings.