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Page 1
Fabry Disease Nephropathy: Histological Changes With Nonclassical Mutations and Genetic Variants of Unknown Significance.
Santostefano M, Cappuccilli M, Gibertoni D, Fabbrizio B, Malvi D, Demetri M, Capelli I, Tringali E, Papa V, Biagini E, Cenacchi G, Galdi A, Donadio V, Liguori R, Zoli G, La Manna G, Pasquinelli G. Santostefano M, et al. Am J Kidney Dis. 2023 Nov;82(5):581-596.e0. doi: 10.1053/j.ajkd.2023.03.015. Epub 2023 Jun 9. Am J Kidney Dis. 2023. PMID: 37301502
Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy.
Liguori R, Incensi A, de Pasqua S, Mignani R, Fileccia E, Santostefano M, Biagini E, Rapezzi C, Palmieri S, Romani I, Borsini W, Burlina A, Bombardi R, Caprini M, Avoni P, Donadio V. Liguori R, et al. Among authors: santostefano m. PLoS One. 2017 Jul 3;12(7):e0180581. doi: 10.1371/journal.pone.0180581. eCollection 2017. PLoS One. 2017. PMID: 28672034 Free PMC article.
Circulating miR-184 is a potential predictive biomarker of cardiac damage in Anderson-Fabry disease.
Salamon I, Biagini E, Kunderfranco P, Roncarati R, Ferracin M, Taglieri N, Nardi E, Laprovitera N, Tomasi L, Santostefano M, Ditaranto R, Vitale G, Cavarretta E, Pisani A, Riccio E, Aiello V, Capelli I, La Manna G, Galiè N, Spinelli L, Condorelli G. Salamon I, et al. Among authors: santostefano m. Cell Death Dis. 2021 Dec 11;12(12):1150. doi: 10.1038/s41419-021-04438-5. Cell Death Dis. 2021. PMID: 34897278 Free PMC article.
Standard ECG for differential diagnosis between Anderson-Fabry disease and hypertrophic cardiomyopathy.
Vitale G, Ditaranto R, Graziani F, Tanini I, Camporeale A, Lillo R, Rubino M, Panaioli E, Di Nicola F, Ferrara V, Zanoni R, Caponetti AG, Pasquale F, Graziosi M, Berardini A, Ziacchi M, Biffi M, Santostefano M, Liguori R, Taglieri N, Nardi E, Linhart A, Olivotto I, Rapezzi C, Biagini E. Vitale G, et al. Among authors: santostefano m. Heart. 2022 Jan;108(1):54-60. doi: 10.1136/heartjnl-2020-318271. Epub 2021 Feb 9. Heart. 2022. PMID: 33563631
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes.
Živná M, Kidd K, Zaidan M, Vyleťal P, Barešová V, Hodaňová K, Sovová J, Hartmannová H, Votruba M, Trešlová H, Jedličková I, Sikora J, Hůlková H, Robins V, Hnízda A, Živný J, Papagregoriou G, Mesnard L, Beck BB, Wenzel A, Tory K, Häeffner K, Wolf MTF, Bleyer ME, Sayer JA, Ong ACM, Balogh L, Jakubowska A, Łaszkiewicz A, Clissold R, Shaw-Smith C, Munshi R, Haws RM, Izzi C, Capelli I, Santostefano M, Graziano C, Scolari F, Sussman A, Trachtman H, Decramer S, Matignon M, Grimbert P, Shoemaker LR, Stavrou C, Abdelwahed M, Belghith N, Sinclair M, Claes K, Kopel T, Moe S, Deltas C, Knebelmann B, Rampoldi L, Kmoch S, Bleyer AJ. Živná M, et al. Among authors: santostefano m. Kidney Int. 2020 Dec;98(6):1589-1604. doi: 10.1016/j.kint.2020.06.041. Epub 2020 Aug 1. Kidney Int. 2020. PMID: 32750457 Free PMC article.
Diagnostic accuracy of anti-phospholipase A2 receptor (PLA2R) antibodies in idiopathic membranous nephropathy: an Italian experience.
Porcelli B, Guarnieri A, Ferretti F, Garosi G, Terzuoli L, Cinci F, Tabucchi A, Tampoia M, Abbracciavento L, Villani C, Deleonardi G, Grondona AG, Mazzolini M, La Manna G, Santostefano M, Infantino M, Manfredi M, Spatoliatore G, Rosati A, Somma C, Bizzaro N. Porcelli B, et al. Among authors: santostefano m. J Nephrol. 2021 Apr;34(2):573-579. doi: 10.1007/s40620-020-00888-w. Epub 2020 Oct 29. J Nephrol. 2021. PMID: 33123964 Free PMC article.
Bortezomib-based therapy combined with high cut-off hemodialysis is highly effective in newly diagnosed multiple myeloma patients with severe renal impairment.
Zannetti BA, Zamagni E, Santostefano M, De Sanctis LB, Tacchetti P, Mancini E, Pantani L, Brioli A, Rizzo R, Mancuso K, Rocchi S, Pezzi A, Borsi E, Terragna C, Marzocchi G, Santoro A, Cavo M. Zannetti BA, et al. Among authors: santostefano m. Am J Hematol. 2015 Jul;90(7):647-52. doi: 10.1002/ajh.24035. Am J Hematol. 2015. PMID: 25858483 Free article.
The Role of Rituximab in Primary Focal Segmental Glomerular Sclerosis of the Adult.
Tedesco M, Mescia F, Pisani I, Allinovi M, Casazza G, Del Vecchio L, Santostefano M, Cirillo L, Ferrario F, Esposito C, Esposito P, Santoro D, Lazzarin R, Rossi GM, Fiaccadori E, Ferrantelli A, Sinico RA, Cozzolino M, Gallieni M; Italian Society of Nephrology Immunopathology Working Group; Cirami L, Scolari F, Vaglio A, Alberici F. Tedesco M, et al. Among authors: santostefano m. Kidney Int Rep. 2022 May 30;7(8):1878-1886. doi: 10.1016/j.ekir.2022.05.024. eCollection 2022 Aug. Kidney Int Rep. 2022. PMID: 35967114 Free PMC article.
61 results