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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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| Vydáno v: | Mov Disord Clin Pract |
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| Hlavní autoři: | , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
John Wiley and Sons Inc.
2015
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| 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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