Mitochondrial Fatty Acid Oxidation Disorders: Laboratory Diagnosis, Pathogenesis, and the Complicated Route to Treatment

Mitochondrial fatty acid (FA) oxidation deficiencies represent a genetically heterogeneous group of diseases in humans caused by defects in mitochondrial FA beta-oxidation (mFAO). A general characteristic of all mFAO disorders is hypoketotic hypoglycemia resulting from the enhanced reliance on gluco...

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Detalles Bibliográficos
Autores principales: Wanders, Ronald J.A., Visser, Gepke, Ferdinandusse, Sacha, Vaz, Frédéric M., Houtkooper, Riekelt H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society of Lipidology and Atherosclerosis 2020
Materias:
Special Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7521971/
https://www.ncbi.nlm.nih.gov/pubmed/33024728
http://dx.doi.org/10.12997/jla.2020.9.3.313

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7521971/
https://www.ncbi.nlm.nih.gov/pubmed/33024728
http://dx.doi.org/10.12997/jla.2020.9.3.313

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