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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Vydáno v:J Lipid Atheroscler
Hlavní autoři: Wanders, Ronald J.A., Visser, Gepke, Ferdinandusse, Sacha, Vaz, Frédéric M., Houtkooper, Riekelt H.
Médium: Artigo
Jazyk:Inglês
Vydáno: Korean Society of Lipidology and Atherosclerosis 2020
Témata:
Special Review
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7521971/
https://ncbi.nlm.nih.gov/pubmed/33024728
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12997/jla.2020.9.3.313
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