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Residual OCTN2 transporter activity, carnitine levels and symptoms correlate in patients with primary carnitine deficiency

1 Jan 2014

Abstract excerpt

BACKGROUND: The prevalence of primary carnitine deficiency (PCD) in the Faroe Islands is the highest reported in the world (1:300). Serious symptoms related to PCD, e.g. sudden death, have previously only been associated to the c.95A > G/c.95A > G genotype in the Faroe Islands. We report and characterize novel mutations associated with PCD in the Faroese population and report and compare free carnitine levels and...

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PMID: 27896095
DOI: 10.1016/j.ymgmr.2014.04.008

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