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Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders.
Hasselbacher K, Wiggins RC, Matejas V, Hinkes BG, Mucha B, Hoskins BE, Ozaltin F, Nürnberg G, Becker C, Hangan D, Pohl M, Kuwertz-Bröking E, Griebel M, Schumacher V, Royer-Pokora B, Bakkaloglu A, Nürnberg P, Zenker M, Hildebrandt F. Hasselbacher K, et al. Among authors: pohl m. Kidney Int. 2006 Sep;70(6):1008-12. doi: 10.1038/sj.ki.5001679. Epub 2006 Aug 16. Kidney Int. 2006. PMID: 16912710 Free article.
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
Sadowski CE, Lovric S, Ashraf S, Pabst WL, Gee HY, Kohl S, Engelmann S, Vega-Warner V, Fang H, Halbritter J, Somers MJ, Tan W, Shril S, Fessi I, Lifton RP, Bockenhauer D, El-Desoky S, Kari JA, Zenker M, Kemper MJ, Mueller D, Fathy HM, Soliman NA; SRNS Study Group; Hildebrandt F. Sadowski CE, et al. J Am Soc Nephrol. 2015 Jun;26(6):1279-89. doi: 10.1681/ASN.2014050489. Epub 2014 Oct 27. J Am Soc Nephrol. 2015. PMID: 25349199 Free PMC article.
Cyclosporin A is superior to cyclophosphamide in children with steroid-resistant nephrotic syndrome-a randomized controlled multicentre trial by the Arbeitsgemeinschaft für Pädiatrische Nephrologie.
Plank C, Kalb V, Hinkes B, Hildebrandt F, Gefeller O, Rascher W; Arbeitsgemeinschaft für Pädiatrische Nephrologie. Plank C, et al. Pediatr Nephrol. 2008 Sep;23(9):1483-93. doi: 10.1007/s00467-008-0794-1. Epub 2008 May 15. Pediatr Nephrol. 2008. PMID: 18481113 Free PMC article. Clinical Trial.
A multicenter, randomized, placebo-controlled, double-blind phase 3 trial with open-arm comparison indicates safety and efficacy of nephroprotective therapy with ramipril in children with Alport's syndrome.
Gross O, Tönshoff B, Weber LT, Pape L, Latta K, Fehrenbach H, Lange-Sperandio B, Zappel H, Hoyer P, Staude H, König S, John U, Gellermann J, Hoppe B, Galiano M, Hoecker B, Ehren R, Lerch C, Kashtan CE, Harden M, Boeckhaus J, Friede T; German Pediatric Nephrology (GPN) Study Group and EARLY PRO-TECT Alport Investigators. Gross O, et al. Kidney Int. 2020 Jun;97(6):1275-1286. doi: 10.1016/j.kint.2019.12.015. Epub 2020 Jan 17. Kidney Int. 2020. PMID: 32299679 Free article. Clinical Trial.
The Cardiovascular Comorbidity in Children with Chronic Kidney Disease (4C) study: objectives, design, and methodology.
Querfeld U, Anarat A, Bayazit AK, Bakkaloglu AS, Bilginer Y, Caliskan S, Civilibal M, Doyon A, Duzova A, Kracht D, Litwin M, Melk A, Mir S, Sözeri B, Shroff R, Zeller R, Wühl E, Schaefer F; 4C Study Group. Querfeld U, et al. Clin J Am Soc Nephrol. 2010 Sep;5(9):1642-8. doi: 10.2215/CJN.08791209. Epub 2010 Jun 24. Clin J Am Soc Nephrol. 2010. PMID: 20576824 Free PMC article.
946 results