Attenuated variants of Lesch-Nyhan disease

Lesch–Nyhan disease is a neurogenetic disorder caused by deficiency of the enzyme hypoxanthine–guanine phosphoribosyltransferase. The classic form of the disease is described by a characteristic syndrome that includes overproduction of uric acid, severe generalized dystonia, cognitive disability and...

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Autors principals: Jinnah, H. A., Ceballos-Picot, Irene, Torres, Rosa J., Visser, Jasper E., Schretlen, David J., Verdu, Alfonso, Laróvere, Laura E., Chen, Chung-Jen, Cossu, Antonello, Wu, Chien-Hui, Sampat, Radhika, Chang, Shun-Jen, de Kremer, Raquel Dodelson, Nyhan, William, Harris, James C., Reich, Stephen G., Puig, Juan G.
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2010
Matèries:
Original Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2842514/
https://ncbi.nlm.nih.gov/pubmed/20176575
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awq013
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