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Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network.
Salvatore M, Polizzi A, De Stefano MC, Floridia G, Baldovino S, Roccatello D, Sciascia S, Menegatti E, Remuzzi G, Daina E, Iatropoulos P, Bembi B, Da Riol RM, Ferlini A, Neri M, Novelli G, Sangiuolo F, Brancati F, Taruscio D. Salvatore M, et al. Among authors: remuzzi g. Ital J Pediatr. 2020 Sep 14;46(1):130. doi: 10.1186/s13052-020-00883-8. Ital J Pediatr. 2020. PMID: 32928283 Free PMC article.
von Willebrand factor cleaving protease (ADAMTS13) is deficient in recurrent and familial thrombotic thrombocytopenic purpura and hemolytic uremic syndrome.
Remuzzi G, Galbusera M, Noris M, Canciani MT, Daina E, Bresin E, Contaretti S, Caprioli J, Gamba S, Ruggenenti P, Perico N, Mannucci PM; Italian Registry of Recurrent and Familial HUS/TTP. Thrombotic thrombocytopenic purpura/hemolytic uremic syndrome. Remuzzi G, et al. Blood. 2002 Aug 1;100(3):778-85. doi: 10.1182/blood-2001-12-0166. Blood. 2002. PMID: 12130486 Free article.
Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease.
Caprioli J, Castelletti F, Bucchioni S, Bettinaglio P, Bresin E, Pianetti G, Gamba S, Brioschi S, Daina E, Remuzzi G, Noris M; International Registry of Recurrent and Familial HUS/TTP. Caprioli J, et al. Among authors: remuzzi g. Hum Mol Genet. 2003 Dec 15;12(24):3385-95. doi: 10.1093/hmg/ddg363. Epub 2003 Oct 28. Hum Mol Genet. 2003. PMID: 14583443
Rituximab prevents recurrence of thrombotic thrombocytopenic purpura: a case report.
Galbusera M, Bresin E, Noris M, Gastoldi S, Belotti D, Capoferri C, Daina E, Perseghin P, Scheiflinger F, Fakhouri F, Grünfeld JP, Pogliani E, Remuzzi G. Galbusera M, et al. Among authors: remuzzi g. Blood. 2005 Aug 1;106(3):925-8. doi: 10.1182/blood-2004-12-4885. Epub 2005 Apr 12. Blood. 2005. PMID: 15827129 Free article.
Outcome of renal transplantation in patients with non-Shiga toxin-associated hemolytic uremic syndrome: prognostic significance of genetic background.
Bresin E, Daina E, Noris M, Castelletti F, Stefanov R, Hill P, Goodship TH, Remuzzi G; International Registry of Recurrent and Familial HUS/TTP. Bresin E, et al. Among authors: remuzzi g. Clin J Am Soc Nephrol. 2006 Jan;1(1):88-99. doi: 10.2215/CJN.00050505. Epub 2005 Nov 2. Clin J Am Soc Nephrol. 2006. PMID: 17699195 Review.
Enzyme replacement therapy and Fabry nephropathy.
Warnock DG, Daina E, Remuzzi G, West M. Warnock DG, et al. Among authors: remuzzi g. Clin J Am Soc Nephrol. 2010 Feb;5(2):371-8. doi: 10.2215/CJN.06900909. Epub 2009 Dec 10. Clin J Am Soc Nephrol. 2010. PMID: 20007680
Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype.
Noris M, Caprioli J, Bresin E, Mossali C, Pianetti G, Gamba S, Daina E, Fenili C, Castelletti F, Sorosina A, Piras R, Donadelli R, Maranta R, van der Meer I, Conway EM, Zipfel PF, Goodship TH, Remuzzi G. Noris M, et al. Among authors: remuzzi g. Clin J Am Soc Nephrol. 2010 Oct;5(10):1844-59. doi: 10.2215/CJN.02210310. Epub 2010 Jul 1. Clin J Am Soc Nephrol. 2010. PMID: 20595690 Free PMC article.
Why rare diseases?
Remuzzi G, Schieppati A. Remuzzi G, et al. Ann Ist Super Sanita. 2011;47(1):94-7. doi: 10.4415/ANN_11_01_18. Ann Ist Super Sanita. 2011. PMID: 21430346 Free article. Review.
1,535 results