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Article

An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.

Molecular genetics and metabolism - 1 Dec 2017

Mosegaard Signe, Bruun Gitte Hoffmann, Flyvbjerg Karen Freund, Bliksrud Yngve Thomas, Gregersen Niels, Dembic Maja, Annexstad Ellen, Tangeraas Trine, Olsen Rikke Katrine Jentoft, Andresen Brage S

Abstract excerpt

Vitamin B2, riboflavin is essential for cellular function, as it participates in a diversity of redox reactions central to human metabolism, through its role as precursor for the cofactors flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD), which are electron carriers. The electron transfer flavoprotein (ETF) and its dehydrogenase (ETFDH), uses FAD as cofactor. The ETF and ETFDH are forming the...

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Source

Identifiers

PMID: 29122468
DOI: 10.1016/j.ymgme.2017.10.014

Genes

ETFDH
MADD

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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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