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Docosahexaenoic acid in ARSACS: observations in two patients
BACKGROUND: Spastic ataxia of Charlevoix-Saguenay is a neurodegenerative condition due to mutations in the SACS gene and without a cure. Attempts to treatments are scarce and limited to symptomatic drugs. CASE PRESENTATION: Two siblings harboring biallelic variants in SACS underwent oral supplementa...
Autores principales: | Ricca, Ivana, Tessa, Alessandra, Trovato, Rosanna, Bacci, Giacomo Maria, Santorelli, Filippo Maria |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7254735/ https://www.ncbi.nlm.nih.gov/pubmed/32466761 http://dx.doi.org/10.1186/s12883-020-01803-3 |
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