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Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.
Hughes DA, Nicholls K, Shankar SP, Sunder-Plassmann G, Koeller D, Nedd K, Vockley G, Hamazaki T, Lachmann R, Ohashi T, Olivotto I, Sakai N, Deegan P, Dimmock D, Eyskens F, Germain DP, Goker-Alpan O, Hachulla E, Jovanovic A, Lourenco CM, Narita I, Thomas M, Wilcox WR, Bichet DG, Schiffmann R, Ludington E, Viereck C, Kirk J, Yu J, Johnson F, Boudes P, Benjamin ER, Lockhart DJ, Barlow C, Skuban N, Castelli JP, Barth J, Feldt-Rasmussen U. Hughes DA, et al. Among authors: schiffmann r. J Med Genet. 2017 Apr;54(4):288-296. doi: 10.1136/jmedgenet-2016-104178. Epub 2016 Nov 10. J Med Genet. 2017. PMID: 27834756 Free PMC article. Clinical Trial.
Five novel mutations in fourteen patients with Fabry Disease.
Rosenberg KM, Schiffmann R, Kaneski C, Brady RO, Sorensen SA, Hasholt L. Rosenberg KM, et al. Among authors: schiffmann r. Hum Mutat. 2000 Feb;15(2):207-8. doi: 10.1002/(SICI)1098-1004(200002)15:2<207::AID-HUMU16>3.0.CO;2-C. Hum Mutat. 2000. PMID: 10649504
Enzyme replacement therapy in Fabry disease.
Brady RO, Murray GJ, Moore DF, Schiffmann R. Brady RO, et al. Among authors: schiffmann r. J Inherit Metab Dis. 2001;24 Suppl 2:18-24; discussion 11-2. doi: 10.1023/a:1012451320105. J Inherit Metab Dis. 2001. PMID: 11758675 Review.
Parkinsonism among Gaucher disease carriers.
Goker-Alpan O, Schiffmann R, LaMarca ME, Nussbaum RL, McInerney-Leo A, Sidransky E. Goker-Alpan O, et al. Among authors: schiffmann r. J Med Genet. 2004 Dec;41(12):937-40. doi: 10.1136/jmg.2004.024455. J Med Genet. 2004. PMID: 15591280 Free PMC article.
Divergent phenotypes in Gaucher disease implicate the role of modifiers.
Goker-Alpan O, Hruska KS, Orvisky E, Kishnani PS, Stubblefield BK, Schiffmann R, Sidransky E. Goker-Alpan O, et al. Among authors: schiffmann r. J Med Genet. 2005 Jun;42(6):e37. doi: 10.1136/jmg.2004.028019. J Med Genet. 2005. PMID: 15937077 Free PMC article.
Quantitative dysmorphology assessment in Fabry disease.
Ries M, Moore DF, Robinson CJ, Tifft CJ, Rosenbaum KN, Brady RO, Schiffmann R, Krasnewich D. Ries M, et al. Among authors: schiffmann r. Genet Med. 2006 Feb;8(2):96-101. doi: 10.1097/01.gim.0000200950.25118.dd. Genet Med. 2006. PMID: 16481892 Free article.
322 results