Associated Papers
Severe Neurological Presentation in Siblings With COQ5-Related Primary Coenzyme Q10 Deficiency: Expanding Clinical and Molecular Spectrum.
Wongkittichote P et al.
Jimd Reports, 2025
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype.
Jurkute N et al.
Npj Genomic Medicine, 2022
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