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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

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