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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Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2006
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Article
Accesso online: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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