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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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Dades bibliogràfiques
Publicat a:Mov Disord Clin Pract
Autors principals: Antelmi, Elena, Stamelou, Maria, Liguori, Rocco, Bhatia, Kailash P.
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2015
Matèries:
Accés en línia: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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