Associated Papers
Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome.
Schneider R et al.
Genes & Diseases, 2025
39584075 (PubMed )
Supplement: mmc2.pdf
Cellular Models for Primary CoQ Deficiency Pathogenesis Study.
Santos-Ocaña C et al.
International Journal of Molecular Sciences, 2021
Urinary coenzyme Q10 as a diagnostic biomarker and predictor of remission in a patient with ADCK4-associated Glomerulopathy: a case report.
Zhang Y et al.
Bmc Nephrology, 2021
Early-onset COQ8B (ADCK4) glomerulopathy in a child with isolated proteinuria: a case report and literature review.
Zhai SB et al.
Bmc Nephrology, 2020
A case report of adult-onset COQ8B nephropathy presenting focal segmental glomerulosclerosis with granular swollen podocytes.
Maeoka Y et al.
Bmc Nephrology, 2020
Long-term follow-up results of patients with ADCK4 mutations who have been diagnosed in the asymptomatic period: effects of early initiation of CoQ10 supplementation.
Atmaca M et al.
The Turkish Journal of Pediatrics, 2019
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_MOESM1_ESM.xlsx › Table_S3
Coenzyme Q10 supplementation therapy for 2 children with proteinuria renal disease and ADCK4 mutation: Case reports and literature review.
Feng C et al.
Medicine, 2017
Follow-up results of patients with ADCK4 mutations and the efficacy of CoQ10 treatment.
Atmaca M et al.
Pediatric Nephrology (berlin, Germany), 2017
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.
Ashraf S et al.
The Journal of Clinical Investigation, 2013
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