Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency.
Kidney Int.
2022 Sep;102(3):604-612. doi: 10.1016/j.kint.2022.04.029. Epub 2022 May 25. PubMed PMID:
35643375.
Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy.
Kidney Int.
2022 Sep;102(3):592-603. doi: 10.1016/j.kint.2022.02.040. Epub 2022 Apr 26. PubMed PMID:
35483523.
Exploring the Clinical and Genetic Spectrum of Steroid Resistant Nephrotic Syndrome: The PodoNet Registry.
Front Pediatr.
2018;6:200. doi: 10.3389/fped.2018.00200. eCollection 2018. Review. PubMed PMID:
30065916; PubMed Central PMCID:
PMC6057105.
Long-Term Outcome of Steroid-Resistant Nephrotic Syndrome in Children.
J Am Soc Nephrol.
2017 Oct;28(10):3055-3065. doi: 10.1681/ASN.2016101121. Epub 2017 May 31. PubMed PMID:
28566477; PubMed Central PMCID:
PMC5619960.
Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia.
PLoS One.
2017;12(8):e0180926. doi: 10.1371/journal.pone.0180926. eCollection 2017. PubMed PMID:
28796785; PubMed Central PMCID:
PMC5552097.
Digital pathology imaging as a novel platform for standardization and globalization of quantitative nephropathology.
Clin Kidney J.
2017 Apr;10(2):176-187. doi: 10.1093/ckj/sfw129. Epub 2017 Feb 18. PubMed PMID:
28584625; PubMed Central PMCID:
PMC5455257.
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.
J Clin Invest.
2017 Mar 1;127(3):912-928. doi: 10.1172/JCI89626. Epub 2017 Feb 6. PubMed PMID:
28165339; PubMed Central PMCID:
PMC5330730.
ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS.
J Am Soc Nephrol.
2016 Jan;27(1):63-8. doi: 10.1681/ASN.2014121240. Epub 2015 May 12. PubMed PMID:
25967120; PubMed Central PMCID:
PMC4696579.
Spectrum of steroid-resistant and congenital nephrotic syndrome in children: the PodoNet registry cohort.
Clin J Am Soc Nephrol.
2015 Apr 7;10(4):592-600. doi: 10.2215/CJN.06260614. Epub 2015 Jan 29. PubMed PMID:
25635037; PubMed Central PMCID:
PMC4386250.
Genotype-phenotype associations in WT1 glomerulopathy.
Kidney Int.
2014 May;85(5):1169-78. doi: 10.1038/ki.2013.519. Epub 2014 Jan 8. PubMed PMID:
24402088.
Genetic screening in adolescents with steroid-resistant nephrotic syndrome.
Kidney Int.
2013 Jul;84(1):206-13. doi: 10.1038/ki.2013.93. Epub 2013 Mar 20. PubMed PMID:
23515051.
NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.
Pediatr Nephrol.
2013 May;28(5):751-7. doi: 10.1007/s00467-012-2379-2. Epub 2012 Dec 14. PubMed PMID:
23242530.
Circulating suPAR in two cohorts of primary FSGS.
J Am Soc Nephrol.
2012 Dec;23(12):2051-9. doi: 10.1681/ASN.2012030302. Epub 2012 Nov 8. PubMed PMID:
23138488; PubMed Central PMCID:
PMC3507361.
MYO1E mutations and childhood familial focal segmental glomerulosclerosis.
N Engl J Med.
2011 Jul 28;365(4):295-306. doi: 10.1056/NEJMoa1101273. Epub 2011 Jul 14. PubMed PMID:
21756023; PubMed Central PMCID:
PMC3701523.
Disruption of PTPRO causes childhood-onset nephrotic syndrome.
Am J Hum Genet.
2011 Jul 15;89(1):139-47. doi: 10.1016/j.ajhg.2011.05.026. Epub 2011 Jun 30. PubMed PMID:
21722858; PubMed Central PMCID:
PMC3135805.
What would you like to do?