Associated Papers
Successful Living Kidney Donation from Heterozygous Carrier Parents to Siblings with Coenzyme Q8B Nephropathy: Two Case Series.
Morita K et al.
Nephron, 2025
Coenzyme Q10 supplementation in adult-onset focal segmental glomerulosclerosis caused by the Chinese common pathogenic variant c.737G > A (p.Ser246Asn) in the COQ8B gene.
Jin S et al.
Renal Failure, 2025
COQ8B gene deficiency as a potential cause of retinal abnormalities in Pediatric kidney transplant recipients.
Feng Y et al.
Human Molecular Genetics, 2025
Genetic profiles of multiple system atrophy revealed by exome sequencing, long-read sequencing and spinocerebellar ataxia repeat expansion analysis.
Li XY et al.
European Journal of Neurology, 2024
[Clinical and genetic analysis of a child with co-morbid progressive IgA nephropathy and COQ8B-associated glomerulopathy].
Sun L et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2024
Genetic testing in pediatric kidney transplant recipients to promote informed choice and improve individualized monitoring.
Feng Y et al.
Orphanet Journal of Rare Diseases, 2024
Clinical follow-up of 2 families with glomerulopathy caused by COQ8B gene variants and literature review.
Zhang L et al.
Frontiers in Pediatrics, 2024
Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application.
Jung J et al.
Clinical Genetics, 2023
Primary Coenzyme Q10 Deficiency: An Update.
Mantle D et al.
Antioxidants (basel, Switzerland), 2023
Why Don't More Mitochondrial Diseases Exhibit Cardiomyopathy?
Singh N et al.
Journal of Cardiovascular Development and Disease, 2023
The Clinical and Genetic Features in Chinese Children With Steroid-Resistant or Early-Onset Nephrotic Syndrome: A Multicenter Cohort Study.
Zhu X et al.
Frontiers in Medicine, 2022
Clinical features and gene variation analysis of COQ8B nephropathy: Report of seven cases.
Liang R et al.
Frontiers in Pediatrics, 2022
An accessible insight into genetic findings for transplantation recipients with suspected genetic kidney disease.
Wang Z et al.
Npj Genomic Medicine, 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
COQ8B nephropathy: Early detection and optimal treatment.
Song X et al.
Molecular Genetics & Genomic Medicine, 2020
Comprehensive genetic diagnosis of Japanese patients with severe proteinuria.
Nagano C et al.
Scientific Reports, 2020
Genetic spectrum of renal disease for 1001 Chinese children based on a multicenter registration system.
Rao J et al.
Clinical Genetics, 2019
The utility of urinary CD80 as a diagnostic marker in patients with renal diseases.
Minamikawa S et al.
Scientific Reports, 2018
Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.
Sun Y et al.
Scientific Reports, 2018
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
Focal segmental glomerulosclerosis and medullary nephrocalcinosis in children with ADCK4 mutations.
Park E et al.
Pediatric Nephrology (berlin, Germany), 2017