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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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Podrobná bibliografie
Vydáno v:Mov Disord Clin Pract
Hlavní autoři: Antelmi, Elena, Stamelou, Maria, Liguori, Rocco, Bhatia, Kailash P.
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2015
Témata:
On-line přístup: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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