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Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study.
Bichet DG, Hopkin RJ, Aguiar P, Allam SR, Chien YH, Giugliani R, Kallish S, Kineen S, Lidove O, Niu DM, Olivotto I, Politei J, Rakoski P, Torra R, Tøndel C, Hughes DA. Bichet DG, et al. Among authors: tondel c. Front Med (Lausanne). 2023 Sep 1;10:1220637. doi: 10.3389/fmed.2023.1220637. eCollection 2023. Front Med (Lausanne). 2023. PMID: 37727761 Free PMC article.
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: tondel c. JIMD Rep. 2013;8:51-6. doi: 10.1007/8904_2012_160. Epub 2012 Jul 14. JIMD Rep. 2013. PMID: 23430520 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: tondel c. 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
Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document.
Biegstraaten M, Arngrímsson R, Barbey F, Boks L, Cecchi F, Deegan PB, Feldt-Rasmussen U, Geberhiwot T, Germain DP, Hendriksz C, Hughes DA, Kantola I, Karabul N, Lavery C, Linthorst GE, Mehta A, van de Mheen E, Oliveira JP, Parini R, Ramaswami U, Rudnicki M, Serra A, Sommer C, Sunder-Plassmann G, Svarstad E, Sweeb A, Terryn W, Tylki-Szymanska A, Tøndel C, Vujkovac B, Weidemann F, Wijburg FA, Woolfson P, Hollak CE. Biegstraaten M, et al. Among authors: tondel c. Orphanet J Rare Dis. 2015 Mar 27;10:36. doi: 10.1186/s13023-015-0253-6. Orphanet J Rare Dis. 2015. PMID: 25885911 Free PMC article.
Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial.
Wijburg FA, Bénichou B, Bichet DG, Clarke LA, Dostalova G, Fainboim A, Fellgiebel A, Forcelini C, An Haack K, Hopkin RJ, Mauer M, Najafian B, Scott CR, Shankar SP, Thurberg BL, Tøndel C, Tylki-Szymańska A, Ramaswami U. Wijburg FA, et al. Among authors: tondel c. PLoS One. 2015 May 8;10(5):e0124987. doi: 10.1371/journal.pone.0124987. eCollection 2015. PLoS One. 2015. PMID: 25955246 Free PMC article. Clinical Trial.
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: tondel c. 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.
Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial.
Ramaswami U, Bichet DG, Clarke LA, Dostalova G, Fainboim A, Fellgiebel A, Forcelini CM, An Haack K, Hopkin RJ, Mauer M, Najafian B, Scott CR, Shankar SP, Thurberg BL, Tøndel C, Tylki-Szymanska A, Bénichou B, Wijburg FA. Ramaswami U, et al. Among authors: tondel c. Mol Genet Metab. 2019 May;127(1):86-94. doi: 10.1016/j.ymgme.2019.03.010. Epub 2019 Apr 3. Mol Genet Metab. 2019. PMID: 30987917 Free article. Clinical Trial.
Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus.
Moreno-Martinez D, Aguiar P, Auray-Blais C, Beck M, Bichet DG, Burlina A, Cole D, Elliott P, Feldt-Rasmussen U, Feriozzi S, Fletcher J, Giugliani R, Jovanovic A, Kampmann C, Langeveld M, Lidove O, Linhart A, Mauer M, Moon JC, Muir A, Nowak A, Oliveira JP, Ortiz A, Pintos-Morell G, Politei J, Rozenfeld P, Schiffmann R, Svarstad E, Talbot AS, Thomas M, Tøndel C, Warnock D, West ML, Hughes DA. Moreno-Martinez D, et al. Among authors: tondel c. Mol Genet Metab. 2021 Apr;132(4):234-243. doi: 10.1016/j.ymgme.2021.02.001. Epub 2021 Feb 20. Mol Genet Metab. 2021. PMID: 33642210
82 results