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A Case of GCH-1 Mutation Dopa-Responsive Dystonia Requiring High Doses of Levodopa for Treatment
BACKGROUND: Mutations in the GCH-1 gene are associated with Autosomal Dominant Dopamine Responsive Dystonia (DYT 5). One of the hallmarks of this condition is dramatic and sustained response to low doses of levodopa. CASE REPORT: We present the case of a 22 year old female patient with genetically c...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Ubiquity Press
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8231451/ https://www.ncbi.nlm.nih.gov/pubmed/34221698 http://dx.doi.org/10.5334/tohm.619 |