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Article

Characterization of the dopamine defect in primary cultures of dopaminergic neurons from hypoxanthine phosphoribosyltransferase knockout mice.

Molecular therapy : the journal of the American Society of Gene Therapy - 1 May 2000

Smith D W, Friedmann T

Abstract excerpt

Lesch-Nyhan disease (LND) is an X-linked metabolic disorder caused by lack of activity of the purine salvage enzyme hypoxanthine phosphoribosyltransferase (HPRT) and characterized by hyperuricemia and debilitating neurological manifestations. The mechanisms underlying the neuropathology are not well understood and the principal neurochemical lesion characterized to date is a deficiency of the dopamine system in...

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PMID: 10933970
DOI: 10.1006/mthe.2000.0057

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