Clinical, Biochemical, and Molecular Analyses of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients

OBJECTIVE: Medium-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. METHODS:...

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Detalles Bibliográficos
Autores principales: Gong, Zhuwen, Liang, Lili, Qiu, Wenjuan, Zhang, Huiwen, Ye, Jun, Wang, Yu, Ji, Wenjun, Chen, Ting, Gu, Xuefan, Han, Lianshu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8025081/
https://www.ncbi.nlm.nih.gov/pubmed/33841490
http://dx.doi.org/10.3389/fgene.2021.577046

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8025081/
https://www.ncbi.nlm.nih.gov/pubmed/33841490
http://dx.doi.org/10.3389/fgene.2021.577046

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