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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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Dettagli Bibliografici
Pubblicato in:Mov Disord Clin Pract
Autori principali: Antelmi, Elena, Stamelou, Maria, Liguori, Rocco, Bhatia, Kailash P.
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2015
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Accesso online: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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