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Article

Genetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases. Molecular pathogenesis and genotype-phenotype relationships.

European journal of biochemistry - 1 Feb 2004

Gregersen Niels, Bross Peter, Andresen Brage S

Abstract excerpt

Mitochondrial fatty acid oxidation deficiencies are due to genetic defects in enzymes of fatty acid beta-oxidation and transport proteins. Genetic defects have been identified in most of the genes where nearly all types of sequence variations (mutation types) have been associated with disease. In this paper, we will discuss the effects of the various types of sequence variations encountered and review current...

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Identifiers

PMID: 14728674
DOI: 10.1046/j.1432-1033.2003.03949.x

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Source receipt: pubmed, retrieved 7 Sept 2026.

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