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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...
Autores principales: | Wanders, Ronald J.A., Visser, Gepke, Ferdinandusse, Sacha, Vaz, Frédéric M., Houtkooper, Riekelt H. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Korean Society of Lipidology and Atherosclerosis
2020
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Materias: | |
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 |
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