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

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 c...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:Mol Genet Metab Rep
Hauptverfasser: Rasmussen, Jan, Lund, Allan M., Risom, Lotte, Wibrand, Flemming, Gislason, Hannes, Nielsen, Olav W., Køber, Lars, Duno, Morten
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2014
Schlagworte:
Research Paper
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5121291/
https://ncbi.nlm.nih.gov/pubmed/27896095
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2014.04.008
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