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Article

Characterization of CoQ₁₀ biosynthesis in fibroblasts of patients with primary and secondary CoQ₁₀ deficiency.

Journal of inherited metabolic disease - 1 Jan 2014

Buján Nuria, Arias Angela, Montero Raquel, García-Villoria Judit, Lissens Willy, Seneca Sara, Espinós Carmen, Navas Plácido, De Meirleir Linda, Artuch Rafael, Briones Paz, Ribes Antonia

Abstract excerpt

Primary coenzyme Q₁₀ (CoQ₁₀) deficiencies are associated with mutations in genes encoding enzymes important for its biosynthesis and patients are responsive to CoQ₁₀ supplementation. Early treatment allows better prognosis of the disease and therefore, early diagnosis is desirable. The complex phenotype and genotype and the frequent secondary CoQ₁₀ deficiencies make it difficult to achieve a definitive diagnosis...

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Source

Identifiers

PMID: 23774949
DOI: 10.1007/s10545-013-9620-4

Genes

COQ2

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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