One-year outcome of coenzyme Q10 supplementation in ADCK3 ataxia (ARCA2)

BACKGROUND: The recessive ataxia ARCA2 is a rare disorder characterized by Coenzyme Q10 (CoQ10) deficiency due to biallelic mutations in ADCK3 gene. Despite the pathophysiological role, available data are not univocal on clinical efficacy of CoQ10 supplementation in ARCA2. Here we described the long...

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Detalles Bibliográficos
Autores principales: Schirinzi, Tommaso, Favetta, Martina, Romano, Alberto, Sancesario, Andrea, Summa, Susanna, Minosse, Silvia, Zanni, Ginevra, Castelli, Enrico, Bertini, Enrico, Petrarca, Maurizio, Vasco, Gessica
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6916514/
https://www.ncbi.nlm.nih.gov/pubmed/31890231
http://dx.doi.org/10.1186/s40673-019-0109-2

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