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Page 1
Clinical Spectrum and Prognosis of Atypical Autosomal Dominant Polycystic Kidney Disease Caused by Monoallelic Pathogenic Variants of IFT140.
Zagorec N, Calamel A, Delaporte M, Olinger E, Orr S, Sayer JA, Pillay VG, Denommé-Pichon AS, Mau-Them FT, Nambot S, Faivre L, Ars E, Torra R, Ong AC, Devuyst O, Perico N, Després AM, Lemoine H, de Fallois J, Brousse R, Hummel A, Knebelmann B, Maisonneuve N, Halbritter J, Le Meur Y, Audrézet MP, Cornec-Le Gall E; Genomics England Research Consortium, CYSTic Consortium and Genkyst Study Group. Zagorec N, et al. Among authors: torra r. Am J Kidney Dis. 2024 Dec 26:S0272-6386(24)01126-0. doi: 10.1053/j.ajkd.2024.10.009. Online ahead of print. Am J Kidney Dis. 2024. PMID: 39732359
Diagnosis, management and treatment of the Alport syndrome - 2024 guideline on behalf of ERKNet, ERA and ESPN.
Torra R, Lipska-Ziętkiewicz B, Acke F, Antignac C, Becker JU, Cornec-Le Gall EC, van Eerde AM, Feltgen N, Ferrari R, Gale DP, Gross O, Haeberle S, Wlodkowski T, Heidet L, Lennon R, Massella L, Topaloglu R, Pfau K, Del Prado Venegas Pizarro M, Zealey H; ERKNet, ERA Genes&Kidney and ESPN WG Hereditary Kidney Disorders groups. Torra R, et al. Nephrol Dial Transplant. 2024 Dec 2:gfae265. doi: 10.1093/ndt/gfae265. Online ahead of print. Nephrol Dial Transplant. 2024. PMID: 39673454
Acute Myeloid Leukemia as a Trigger for Hemolytic-Uremic Syndrome.
El Bachouti J, Domínguez-Guasch A, Arce Y, Oñate G, Marco H, Diaz M, Guirado L, Torra R, Barros X. El Bachouti J, et al. Among authors: torra r. J Clin Med. 2024 Oct 28;13(21):6468. doi: 10.3390/jcm13216468. J Clin Med. 2024. PMID: 39518607 Free PMC article.
Inherited kidney disease and CAKUT are common causes of kidney failure requiring kidney replacement therapy: an ERA Registry study.
Ortiz A, Kramer A, Ariceta G, Rodríguez Arévalo OL, Gjerstad AC, Santiuste C, Trujillo-Alemán S, Ferraro PM, Methven S, Santamaría R, Naumovic R, Resic H, Hommel K, Segelmark M, Ambühl PM, Sorensen SS, Parmentier C, Vidal E, Bakkaloglu SA, Plumb L, Palsson R, Kerschbaum J, Ten Dam MAGJ, Stel VS, Jager KJ, Torra R. Ortiz A, et al. Among authors: torra r. Nephrol Dial Transplant. 2024 Nov 6:gfae240. doi: 10.1093/ndt/gfae240. Online ahead of print. Nephrol Dial Transplant. 2024. PMID: 39508350
Renal and multisystem effectiveness of 3.9 years of migalastat in a global real-world cohort: Results from the followME Fabry Pathfinders registry.
Hughes DA, Sunder-Plassmann G, Jovanovic A, Brand E, West ML, Bichet DG, Pisani A, Nowak A, Torra R, Khan A, Azevedo O, Lehman A, Linhart A, Rutecki J, Giuliano JD, Krusinska E, Nordbeck P. Hughes DA, et al. Among authors: torra r. J Inherit Metab Dis. 2025 Jan;48(1):e12771. doi: 10.1002/jimd.12771. Epub 2024 Jul 19. J Inherit Metab Dis. 2025. PMID: 39031114 Free PMC article.
Genetic Characterization of Kidney Failure of Unknown Etiology in Spain: Findings From the GENSEN Study.
Blasco M, Quiroga B, García-Aznar JM, Castro-Alonso C, Fernández-Granados SJ, Luna E, Fernández Fresnedo G, Ossorio M, Izquierdo MJ, Sanchez-Ospina D, Castañeda-Infante L, Mouzo R, Cao M, Besada-Cerecedo ML, Pan-Lizcano R, Torra R, Ortiz A, de Sequera P; GENSEN Study Investigators. Blasco M, et al. Among authors: torra r. Am J Kidney Dis. 2024 Dec;84(6):719-730.e1. doi: 10.1053/j.ajkd.2024.04.021. Epub 2024 Jul 6. Am J Kidney Dis. 2024. PMID: 38972501
236 results