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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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| Pubblicato in: | Ann Clin Transl Neurol |
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| Autori principali: | , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
John Wiley and Sons Inc.
2017
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| Soggetti: | |
| Accesso online: | 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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