Associated Papers
Mitochondrial Disease and the Kidney With a Special Focus on CoQ10 Deficiency.
Schijvens AM et al.
Kidney International Reports, 2020
33305107 (PubMed )
Supplement: mmc1.pdf
Redefining infantile-onset multisystem phenotypes of coenzyme Q10-deficiency in the next-generation sequencing era.
Berardo A et al.
Journal of Translational Genetics and Genomics, 2020
Estimating the occurrence of primary ubiquinone deficiency by analysis of large-scale sequencing data.
Hughes BG et al.
Scientific Reports, 2017
29255295 (PubMed )
Supplement: 41598_2017_17564_MOESM3_ESM.xlsx › COQ2
4-Hydroxybenzoic acid restores CoQ10 biosynthesis in human COQ2 deficiency.
Herebian D et al.
Annals of Clinical and Translational Neurology, 2017
29296619 (PubMed )
Supplement: ACN3-4-902-s001.pdf
The COQ2 genotype predicts the severity of coenzyme Q10 deficiency.
Desbats MA et al.
Human Molecular Genetics, 2016
A novel mutation in COQ2 leading to fatal infantile multisystem disease.
Jakobs BS et al.
Journal of the Neurological Sciences, 2013
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