Associated Papers
COQ8B gene deficiency as a potential cause of retinal abnormalities in Pediatric kidney transplant recipients.
Feng Y et al.
Human Molecular Genetics, 2025
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
Primary Coenzyme Q10 Deficiency: An Update.
Mantle D et al.
Antioxidants (basel, Switzerland), 2023
New insights from trio whole-exome sequencing in the children with kidney disease: A single-center retrospective cohort study.
Chen Y et al.
Molecular Genetics & Genomic Medicine, 2023
Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform.
Liu Y et al.
Human Genome Variation, 2023
Long-term nephrotic syndrome recurrence risk of kidney transplantation in two siblings with ADCK4-associated glomerulopathy.
Wang S et al.
Pediatric Transplantation, 2022
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
Whole-exome sequencing reveals a novel homozygous mutation in the COQ8B gene associated with nephrotic syndrome.
Fareed M et al.
Scientific Reports, 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
COQ8B nephropathy: Early detection and optimal treatment.
Song X et al.
Molecular Genetics & Genomic Medicine, 2020
Reassessing the pathogenicity of c.2858G>T(p.(G953V)) in COL4A5 Gene: report of 19 Chinese families.
Zhang Y et al.
European Journal of Human Genetics : Ejhg, 2020
Genetic spectrum of renal disease for 1001 Chinese children based on a multicenter registration system.
Rao J et al.
Clinical Genetics, 2019
[Mutation analysis of a family affected with isolated proteinuria].
Yang Z et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2019
Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.
Sun Y et al.
Scientific Reports, 2018
Steroid-resistant nephrotic syndrome caused by co-inheritance of mutations at NPHS1 and ADCK4 genes in two Chinese siblings.
Zhang H et al.
Intractable & Rare Diseases Research, 2017
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