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Article

Update on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ 10).

Journal of inherited metabolic disease - 1 Jul 2012

Horvath Rita

Abstract excerpt

Riboflavin and ubiquinone (Coenzyme Q(10), CoQ(10)) deficiencies are heterogeneous groups of autosomal recessive conditions affecting both children and adults. Riboflavin (vitamin B(2))-derived cofactors are essential for the function of numerous dehydrogenases. Genetic defects of the riboflavin transport have been detected in Brown-Vialetto-Van Laere and Fazio-Londe syndromes (C20orf54), and haploinsufficiency...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22231380
DOI: 10.1007/s10545-011-9434-1

Genes

ACAD9
COQ2
COQ6
COQ9
ETFA
ETFB
ETFDH
PDSS1
PDSS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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