A novel tandem mass spectrometry method for rapid confirmation of medium- and very long-chain acyl-CoA dehydrogenase deficiency in newborns.

A novel tandem mass spectrometry method for rapid confirmation of medium- and very long-chain acyl-CoA dehydrogenase deficiency in newborns.

BACKGROUND:Newborn screening for medium- and very long-chain acyl-CoA dehydrogenase (MCAD and VLCAD, respectively) deficiency, using acylcarnitine profiling with tandem mass spectrometry, has increased the number of patients with fatty acid oxidation disorders due to the identification of additional...

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Váldodahkkit: Frank ter Veld, Martina Mueller, Simone Kramer, Ulrike Haussmann, Diran Herebian, Ertan Mayatepek, Maurice D Laryea, Sonja Primassin, Ute Spiekerkoetter
Materiálatiipa: Artihkal
Giella:English
Almmustuhtton: Public Library of Science (PLoS) 2009-07-01
Ráidu:PLoS ONE
Liŋkkat:http://europepmc.org/articles/PMC2715108?pdf=render

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http://europepmc.org/articles/PMC2715108?pdf=render

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