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Article

High-resolution melting analysis, a simple and effective method for reliable mutation scanning and frequency studies in the ACADVL gene.

Journal of inherited metabolic disease - 1 Jun 2010

Olsen Rikke Katrine Jentoft, Dobrowolski Steven F, Kjeldsen Margrethe, Hougaard David, Simonsen Henrik, Gregersen Niels, Andresen Brage Storstein

Abstract excerpt

Expanded newborn screening uses tandem mass spectrometry (MS/MS) to identify patients affected with fatty acid oxidation defects by the presence of pathological acylcarnitine esters. A caveat to MS/MS assessment is that cut-off values for disease-specific acylcarnitines does not always clearly discriminate affected patients from carriers and healthy individuals. Diagnostic evaluation of screening-positive samples...

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Source

Identifiers

PMID: 20480395
DOI: 10.1007/s10545-010-9101-y

Genes

ACADVL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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