Article
Hypoxanthine-guanine phosphoribosyltransferase deficiency: biochemical and molecular findings in six Argentine patients.
Nucleosides, nucleotides & nucleic acids - 1 Jan 2007
Laróvere L E, O'Neill J P, Randall M, Fairbanks L D, Guelbert N, Czornyj L, de Kremer R Dodelson
Abstract excerpt
Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is an inborn error of purine metabolism responsible for Lesch-Nyhan Disease (LND) and its partial phenotypes, HPRT-related hyperuricemia with neurologic dysfunction (HRND) and hyperuricemia alone. We report here the recognition of six Argentine patients, two with LND and four with HRND. All patients presented elevated excretion of uric acid,...
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