Article
Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands.
Journal of inherited metabolic disease - 1 Mar 2014
Rasmussen Jan, Nielsen Olav W, Janzen Nils, Duno Morten, Gislason Hannes, Køber Lars, Steuerwald Ulrike, Lund Allan M
Abstract excerpt
BACKGROUND: Primary carnitine deficiency (PCD) is an autosomal recessive disorder of fatty acid oxidation and has been associated to episodes of sudden death in the Faroe Islands. Data are presented from the nationwide population based Faroese screening program to find people with low carnitine levels indicating PCD. METHODS: Whole blood samples from dried blood spots were analysed by tandem mass spectrometry...
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