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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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Bibliografski detalji
Izdano u:Ann Clin Transl Neurol
Glavni autori: Herebian, Diran, Seibt, Annette, Smits, Sander H. J., Rodenburg, Richard J., Mayatepek, Ertan, Distelmaier, Felix
Format: Artigo
Jezik:Inglês
Izdano: John Wiley and Sons Inc. 2017
Teme:
Online pristup: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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