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4‐Hydroxybenzoic acid restores CoQ(10) biosynthesis in human COQ2 deficiency

The clinical phenotypes of human CoQ(10)‐deficiency caused by COQ2 mutations range from fatal neonatal disease to adult‐onset multisystem atrophy. So far, treatment options for these diseases are unsatisfactory. Here, we demonstrate that supplementation of 4‐hydroxybenzoic acid (4‐HBA) fully restore...

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Detalhes bibliográficos
Publicado no:Ann Clin Transl Neurol
Main Authors: Herebian, Diran, Seibt, Annette, Smits, Sander H. J., Rodenburg, Richard J., Mayatepek, Ertan, Distelmaier, Felix
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5740244/
https://ncbi.nlm.nih.gov/pubmed/29296619
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.486
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