Delineation of the motor disorder of Lesch–Nyhan disease

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-inju...

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Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado: 2006
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3508431/
https://ncbi.nlm.nih.gov/pubmed/16549399
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awl056
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