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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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Detaylı Bibliyografya
Yayımlandı:Mov Disord Clin Pract
Asıl Yazarlar: Antelmi, Elena, Stamelou, Maria, Liguori, Rocco, Bhatia, Kailash P.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: John Wiley and Sons Inc. 2015
Konular:
Online Erişim: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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