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Recommendations on reintroduction of agalsidase Beta for patients with fabry disease in europe, following a period of shortage.
Linthorst GE, Burlina AP, Cecchi F, Cox TM, Fletcher JM, Feldt-Rasmussen U, Giugliani R, Hollak CE, Houge G, Hughes D, Kantola I, Lachmann R, Lopez M, Ortiz A, Parini R, Rivera A, Rolfs A, Ramaswami U, Svarstad E, Tondel C, Tylki-Szymanska A, Vujkovac B, Waldek S, West M, Weidemann F, Mehta A. Linthorst GE, et al. Among authors: ortiz a. JIMD Rep. 2013;8:51-6. doi: 10.1007/8904_2012_160. Epub 2012 Jul 14. JIMD Rep. 2013. PMID: 23430520 Free PMC article.
Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation.
Warnock DG, Ortiz A, Mauer M, Linthorst GE, Oliveira JP, Serra AL, Maródi L, Mignani R, Vujkovac B, Beitner-Johnson D, Lemay R, Cole JA, Svarstad E, Waldek S, Germain DP, Wanner C; Fabry Registry. Warnock DG, et al. Among authors: ortiz a. Nephrol Dial Transplant. 2012 Mar;27(3):1042-9. doi: 10.1093/ndt/gfr420. Epub 2011 Jul 29. Nephrol Dial Transplant. 2012. PMID: 21804088 Free PMC article.
Chronic kidney disease and an uncertain diagnosis of Fabry disease: approach to a correct diagnosis.
van der Tol L, Svarstad E, Ortiz A, Tøndel C, Oliveira JP, Vogt L, Waldek S, Hughes DA, Lachmann RH, Terryn W, Hollak CE, Florquin S, van den Bergh Weerman MA, Wanner C, West ML, Biegstraaten M, Linthorst GE. van der Tol L, et al. Among authors: ortiz a. Mol Genet Metab. 2015 Feb;114(2):242-7. doi: 10.1016/j.ymgme.2014.08.007. Epub 2014 Aug 20. Mol Genet Metab. 2015. PMID: 25187469
Screening, diagnosis, and management of patients with Fabry disease: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference.
Schiffmann R, Hughes DA, Linthorst GE, Ortiz A, Svarstad E, Warnock DG, West ML, Wanner C; Conference Participants. Schiffmann R, et al. Among authors: ortiz a. Kidney Int. 2017 Feb;91(2):284-293. doi: 10.1016/j.kint.2016.10.004. Epub 2016 Dec 18. Kidney Int. 2017. PMID: 27998644 Free article.
Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry.
Wilcox WR, Feldt-Rasmussen U, Martins AM, Ortiz A, Lemay RM, Jovanovic A, Germain DP, Varas C, Nicholls K, Weidemann F, Hopkin RJ. Wilcox WR, et al. Among authors: ortiz a. JIMD Rep. 2018;38:45-51. doi: 10.1007/8904_2017_28. Epub 2017 May 17. JIMD Rep. 2018. PMID: 28510034 Free PMC article.
Fabry disease revisited: Management and treatment recommendations for adult patients.
Ortiz A, Germain DP, Desnick RJ, Politei J, Mauer M, Burlina A, Eng C, Hopkin RJ, Laney D, Linhart A, Waldek S, Wallace E, Weidemann F, Wilcox WR. Ortiz A, et al. Mol Genet Metab. 2018 Apr;123(4):416-427. doi: 10.1016/j.ymgme.2018.02.014. Epub 2018 Feb 28. Mol Genet Metab. 2018. PMID: 29530533 Free article. Review.
European expert consensus statement on therapeutic goals in Fabry disease.
Wanner C, Arad M, Baron R, Burlina A, Elliott PM, Feldt-Rasmussen U, Fomin VV, Germain DP, Hughes DA, Jovanovic A, Kantola I, Linhart A, Mignani R, Monserrat L, Namdar M, Nowak A, Oliveira JP, Ortiz A, Pieroni M, Spada M, Tylki-Szymańska A, Tøndel C, Viana-Baptista M, Weidemann F, Hilz MJ. Wanner C, et al. Among authors: ortiz a. Mol Genet Metab. 2018 Jul;124(3):189-203. doi: 10.1016/j.ymgme.2018.06.004. Epub 2018 Jun 12. Mol Genet Metab. 2018. PMID: 30017653 Review.
The effect of enzyme replacement therapy on clinical outcomes in female patients with Fabry disease - A systematic literature review by a European panel of experts.
Germain DP, Arad M, Burlina A, Elliott PM, Falissard B, Feldt-Rasmussen U, Hilz MJ, Hughes DA, Ortiz A, Wanner C, Weidemann F, Spada M. Germain DP, et al. Among authors: ortiz a. Mol Genet Metab. 2019 Mar;126(3):224-235. doi: 10.1016/j.ymgme.2018.09.007. Epub 2018 Sep 27. Mol Genet Metab. 2019. PMID: 30413388 Free article.
Cardiomyopathy and kidney function in agalsidase beta-treated female Fabry patients: a pre-treatment vs. post-treatment analysis.
Wanner C, Feldt-Rasmussen U, Jovanovic A, Linhart A, Yang M, Ponce E, Brand E, Germain DP, Hughes DA, Jefferies JL, Martins AM, Nowak A, Vujkovac B, Weidemann F, West ML, Ortiz A. Wanner C, et al. Among authors: ortiz a. ESC Heart Fail. 2020 Jun;7(3):825-834. doi: 10.1002/ehf2.12647. Epub 2020 Feb 26. ESC Heart Fail. 2020. PMID: 32100468 Free PMC article.
Improvement of gastrointestinal symptoms in a significant proportion of male patients with classic Fabry disease treated with agalsidase beta: A Fabry Registry analysis stratified by phenotype.
Hopkin RJ, Feldt-Rasmussen U, Germain DP, Jovanovic A, Martins AM, Nicholls K, Ortiz A, Politei J, Ponce E, Varas C, Weidemann F, Yang M, Wilcox WR. Hopkin RJ, et al. Among authors: ortiz a. Mol Genet Metab Rep. 2020 Oct 30;25:100670. doi: 10.1016/j.ymgmr.2020.100670. eCollection 2020 Dec. Mol Genet Metab Rep. 2020. PMID: 33163363 Free PMC article.
2,904 results