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Status epilepticus and coma leading to death in a boy caused by Medium-chainacyl-coA dehydrogenase deficiency

Medium-chain acyl-coA dehydrogenase deficiency (MCADD) is an autosomal recessive disorder of fatty acid β- oxidation, which is inherited in an autosomal recessive manner. The enzyme plays a role in hepatic Ketogenesis, which is a significant source of energy during prolonged fasting. There is no met...

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Detalles Bibliográficos
Autores principales: ABBASI, Ezatolah, GHAZAVI, Ahad, HASSANVAND AMOUZADEH, Masoud, VALIZADEH, Mohammad, AKHAVAN SEPAHI, Mohsen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Shahid Beheshti University of Medical Sciences 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8570626/
https://www.ncbi.nlm.nih.gov/pubmed/34782845
http://dx.doi.org/10.22037/ijcn.v15i4.23925

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