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[DOI] [PubMed] [Google Scholar] 121.Hurley SF, Jolley DJ, Kaldor JM

SLC22A5 mutations impair OCTN2 function, causing primary carnitine deficiency (PCD) (1517), an autosomal recessive disorder characterized by skeletal myopathy, progressive cardiomyopathy, hypoglycemia, and hyperammonemia

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Blood samples were collected over a short 4h duration, which is a limitation as the time course was truncated before plasma ascorbate had returned to baseline, thus limiting the AUC findings

It is located in complex 1 of the mitochondrial electron transport chain (Fig
