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Article

Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency.

Journal of inherited metabolic disease - 1 Feb 2008

Derks T G J, Boer T S, van Assen A, Bos T, Ruiter J, Waterham H R, Niezen-Koning K E, Wanders R J A, Rondeel J M M, Loeber J G, Ten Kate L P, Smit G P A, Reijngoud D-J

Abstract excerpt

The outcome was determined of population-wide neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (MS/MS) in The Netherlands, between October 2003 and September 2005. Prospective population-wide neonatal screening for MCAD deficiency was performed in the northern part of The Netherlands. In newborns with blood octanoylcarnitine (C(8:0)) concentrations > or...

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PMID: 18188679
DOI: 10.1007/s10545-007-0492-3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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