Long-term major clinical outcomes in patients with long chain fatty acid oxidation disorders before and after transition to triheptanoin treatment--A retrospective chart review.


BACKGROUND Long chain fatty acid oxidation disorders (LC-FAODs) are caused by defects in the metabolic pathway that converts stored long-chain fatty acids into energy, leading to a deficiency in mitochondrial energy production during times of physiologic stress and fasting. Severe and potentially life threatening clinical manifestations include… (More)
DOI: 10.1016/j.ymgme.2015.06.006


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