Lesch-Nyhan syndrome: An overview of pha
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Johnson, Lynelle T. ;Patel, Pragna I.
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Article
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1996
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John Wiley and Sons
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English
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The enzyme hypoxanthine phosphoribosyltransferase (HPRT), expressed at low levels in non-neuronal tissues and higher levels in the brain, catalyzes the cellular salvage of the purine bases hypoxanthine and guanine. A complete deficiency of HPRT results in Lesch-Nyhan syndrome (LNS). LNS is character