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Article

Deuterated palmitate-driven acylcarnitine formation by whole-blood samples for a rapid diagnostic exploration of mitochondrial fatty acid oxidation disorders.

Clinica chimica acta; international journal of clinical chemistry - 1 Aug 2009

Dessein Anne-Frédérique, Fontaine Monique, Dobbelaere Dries, Mention-Mulliez Karine, Martin-Ponthieu Annie, Briand Gilbert, Vamecq Joseph

Abstract excerpt

BACKGROUND: The biochemical diagnosis of mitochondrial fatty acid oxidation defects (FAOD) currently rests on enzyme assays. A dynamic ex vivo exploration consisting of incubations of whole-blood samples with stable-labeled palmitate and determining leukocyte capacities to produce deuterated acylcarnitines was developed on healthy controls (n=52) and patients with very-long- (VLCADD) (n=2), medium- (MCADD) (n=6),...

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Identifiers

PMID: 19422814
DOI: 10.1016/j.cca.2009.04.026

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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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