Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry

OBJECTIVE—To establish criteria for the diagnosis of medium chain acyl-CoA dehydrogenase (MCAD) deficiency in the UK population using a method in which carnitine species eluted from blood spots are butylated and analysed by electrospray ionisation tandem mass spectrometry (ESI-MS/MS).
DESIGN—Four gr...

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Hlavní autoři: Clayton, P., Doig, M., Ghafari, S., Meaney, C., Taylor, C., Leonard, J., Morris, M., Johnson, A.
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Group 1998
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Original Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1717662/
https://ncbi.nlm.nih.gov/pubmed/9797589
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