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Article

Normal acylcarnitine levels during confirmation of abnormal newborn screening in long-chain fatty acid oxidation defects.

Journal of inherited metabolic disease - 1 Jan 2005

Browning M F, Larson C, Strauss A, Marsden D L

Abstract excerpt

We report two infants identified by tandem mass spectrometry (MS/MS) of neonatal blood spot acylcarnitines and confirmed by molecular genetic analysis to have long-chain fatty acid oxidation defects. In both cases, acylcarnitine concentrations in confirmatory plasma samples were normal. None the less, molecular testing identified trifunctional protein (TFP) deficiency (McKusick 600890) and very long-chain...

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Share to Acyl-CoA Dehydrogenase, Long-Chain
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15902557
DOI: 10.1007/s10545-005-0545-4

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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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