Xanthine calculi in a patient with Lesch-Nyhan syndrome and factor V Leiden treated with allopurinol: case report
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DOI: 10.1186/s12887-018-1197-5
Abstract: BackgroundLesch-Nyhan syndrome is a rare inborn error of purine metabolism marked by a complete deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). Inherited as an X-linked recessive genetic disorder that primarily affects males, patients with Lesch-Nyhan… read more here.
Keywords: nyhan syndrome; lesch nyhan; case; treated allopurinol ... See more keywords