Article
Delineation of the motor disorder of Lesch-Nyhan disease.
Brain : a journal of neurology - 1 May 2006
Jinnah H A, Visser Jasper E, Harris James C, Verdu Alfonso, Larovere Laura, Ceballos-Picot Irene, Gonzalez-Alegre Pedro, Neychev Vladimir, Torres Rosa J, Dulac Olivier, Desguerre Isabelle, Schretlen David J, Robey Kenneth L, Barabas Gabor, Bloem Bastiaan R, Nyhan William, De Kremer Raquel, Eddey Gary E, Puig Juan G, Reich Stephen G
Abstract excerpt
Lesch-Nyhan disease (LND) is caused by deficiency of the purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). Affected individuals exhibit over-production of uric acid, along with a characteristic neurobehavioural syndrome that includes mental retardation, recurrent self-injurious behaviour and motor disability. Prior studies involving relatively small numbers of patients have provided...
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