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...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: Rasmussen, Jan, Lund, Allan M., Risom, Lotte, Wibrand, Flemming, Gislason, Hannes, Nielsen, Olav W., Køber, Lars, Duno, Morten
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2014
Assuntos:
Research Paper
Acesso em linha: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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