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Article

DNA-based prenatal diagnosis for severe and variant forms of multiple acyl-CoA dehydrogenation deficiency.

Prenatal diagnosis - 1 Jan 2005

Olsen Rikke K J, Andresen Brage S, Christensen Ernst, Mandel Hanna, Skovby Flemming, Nielsen Jens Peter, Knudsen Inga, Vianey-Saban Christine, Simonsen Henrik, Gregersen Niels

Abstract excerpt

OBJECTIVES: Multiple acyl-CoA dehydrogenation deficiency (MADD) is a clinically heterogeneous disorder of mitochondrial fatty acid, amino acid, and choline oxidation due to mutations in the genes encoding electron transfer flavoprotein (ETF) or ETF ubiquinone oxidoreductase (ETFQO). So far, prenatal diagnosis of MADD has relied mostly on second-trimester biochemical analyses of amniotic fluid or cultured...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chorionic Villi Sampling

Share to Electron-Transferring Flavoproteins

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Source

Identifiers

PMID: 15662686
DOI: 10.1002/pd.983

Genes

MADD

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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