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- W44925963 abstract "The Lesch-Nyhan Syndrome (LNS) is a rare x-linked neurological disease of children characterized by choreoathetosis, spasticity, mental retardation and compulsive self mutilation accompanied by excessive purine production and hyperuricemia (1). The virtually complete deficiency of activity of a purine salvage enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGPRT) (EC 2.4.2.8.) (2), due to structural gene mutation (3,4) has been shown to be the basic abnormality in this disease. In erythrocytes of LNS patients, HGPRT deficiency has been found to be associated with increased activity and relative thermal stability of adenine phosphoribosyltransferase (APRT) (EC 2.4.2.7.) (5,6) an autosomally determined enzyme (7)." @default.
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- W44925963 date "1974-01-01" @default.
- W44925963 modified "2023-09-27" @default.
- W44925963 title "Resistance of Erythrocyte Adenine Phosphoribosyltransferase in the Lesch-Nyhan Syndrome to Destabilization to Heat by Hypoxanthine" @default.
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- W44925963 doi "https://doi.org/10.1007/978-1-4684-3294-7_26" @default.
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