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Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
Germain DP, Hughes DA, Nicholls K, Bichet DG, Giugliani R, Wilcox WR, Feliciani C, Shankar SP, Ezgu F, Amartino H, Bratkovic D, Feldt-Rasmussen U, Nedd K, Sharaf El Din U, Lourenco CM, Banikazemi M, Charrow J, Dasouki M, Finegold D, Giraldo P, Goker-Alpan O, Longo N, Scott CR, Torra R, Tuffaha A, Jovanovic A, Waldek S, Packman S, Ludington E, Viereck C, Kirk J, Yu J, Benjamin ER, Johnson F, Lockhart DJ, Skuban N, Castelli J, Barth J, Barlow C, Schiffmann R. Germain DP, et al. Among authors: scott cr. N Engl J Med. 2016 Aug 11;375(6):545-55. doi: 10.1056/NEJMoa1510198. N Engl J Med. 2016. PMID: 27509102 Free article. Clinical Trial.
Analysis of left ventricular mass in untreated men and in men treated with agalsidase-β: data from the Fabry Registry.
Germain DP, Weidemann F, Abiose A, Patel MR, Cizmarik M, Cole JA, Beitner-Johnson D, Benistan K, Cabrera G, Charrow J, Kantola I, Linhart A, Nicholls K, Niemann M, Scott CR, Sims K, Waldek S, Warnock DG, Strotmann J; Fabry Registry. Germain DP, et al. Among authors: scott cr. Genet Med. 2013 Dec;15(12):958-65. doi: 10.1038/gim.2013.53. Epub 2013 May 23. Genet Med. 2013. PMID: 23703683 Free article.
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: scott cr. 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.
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: scott cr. 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.
Long-term treatment outcomes in Gaucher disease.
Charrow J, Scott CR. Charrow J, et al. Among authors: scott cr. Am J Hematol. 2015 Jul;90 Suppl 1:S19-24. doi: 10.1002/ajh.24056. Am J Hematol. 2015. PMID: 26096742 Free article. Review.
Newborn Screening for Pompe Disease.
Bodamer OA, Scott CR, Giugliani R; Pompe Disease Newborn Screening Working Group. Bodamer OA, et al. Among authors: scott cr. Pediatrics. 2017 Jul;140(Suppl 1):S4-S13. doi: 10.1542/peds.2016-0280C. Pediatrics. 2017. PMID: 29162673
229 results