Article
Purine synthesis de novo and salvage in hypoxanthine phosphoribosyltransferase-deficient mice.
Enzyme - 1 Jan 1990
Allsop J, Watts R W
Abstract excerpt
Extreme degrees of hypoxanthine phosphoribosyltransferase (HPRT) deficiency in man are associated with gross sex-linked neurological dysfunction, gout and urinary stones (the Lesch-Nyhan or 'complete HPRT-deficiency' syndrome). The less severe degrees of enzyme deficiency (sex-linked recessive gout and/or urolithiasis or the 'partial HPRT-deficiency' syndrome) may be associated with minor neurological...
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