Loss of Dopamine Phenotype Among Midbrain Neurons in Lesch–Nyhan Disease

OBJECTIVE: Lesch–Nyhan disease (LND) is caused by congenital deficiency of the purine recycling enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt). Affected patients have a peculiar neurobehavioral syndrome linked with reductions of dopamine in the basal ganglia. The purpose of the curre...

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Detalhes bibliográficos
Publicado no:Ann Neurol
Main Authors: Göttle, Martin, Prudente, Cecilia N., Fu, Rong, Sutcliffe, Diane, Pang, Hong, Cooper, Deborah, Veledar, Emir, Glass, Jonathan D., Gearing, Marla, Visser, Jasper E., Jinnah, H. A.
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4827147/
https://ncbi.nlm.nih.gov/pubmed/24891139
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.24191
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