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Nonmotor Symptoms in Dopa‐Responsive Dystonia

BACKGROUND: Dopa‐responsive dystonia (DRD) is a rare inherited dystonia, caused by an autosomal dominantly inherited defect in the gene GCH1 that encodes guanosine triphosphate cyclohydrolase 1. It catalyzes the first and rate‐limiting enzyme in the biosynthesis of tetrahydrobiopterin, which is the...

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Detalhes bibliográficos
Publicado no:Mov Disord Clin Pract
Main Authors: Antelmi, Elena, Stamelou, Maria, Liguori, Rocco, Bhatia, Kailash P.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6178708/
https://ncbi.nlm.nih.gov/pubmed/30363518
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mdc3.12211
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