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Carnitine is required for the transport of long-chain acylcarnitines into the mitochondrial matrix, otherwise they accumulate in the mitochondrial intermembrane space and induce detrimental effects on both mitochondrial respiration and pyruvate metabolism

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Because obtaining liver biopsies was not feasible for this population, we were unable to directly confirm genomic integration of the vector construct or expression of transgenic MMUT, which is localized to the mitochondria (e.g., not detectable in serum/blood under typical circumstances)