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Novel ACADVL variants resulting in mitochondrial defects in long-chain acyl-CoA dehydrogenase deficiency
The pathogenesis of very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is highly heterogeneous and still unclear. Additional novel variants have been recently detected in the population. The molecular and cellular effects of these previously unreported variants are still poorly understood and...
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| Pubblicato in: | J Zhejiang Univ Sci B |
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| Autori principali: | , , , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Zhejiang University Press
2020
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7691688/ https://ncbi.nlm.nih.gov/pubmed/33150772 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1631/jzus.B2000339 |
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