Clinical, Biochemical, and Molecular Analyses of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients
ObjectiveMedium-chain acyl-CoA dehydrogenase deficiency (MCADD) is a rare inherited metabolic disorder of fatty acid β-oxidation. The present study aimed to evaluate clinical and biochemical manifestations, and the mutation spectrum of this disorder in a large cohort of Chinese patients.MethodsA tot...
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| Główni autorzy: | , , , , , , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
Frontiers Media S.A.
2021-03-01
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| Seria: | Frontiers in Genetics |
| Hasła przedmiotowe: | |
| Dostęp online: | https://www.frontiersin.org/articles/10.3389/fgene.2021.577046/full |
| Etykiety: |
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