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A randomized trial comparing the efficacy and safety of imiglucerase (Cerezyme) infusions every 4 weeks versus every 2 weeks in the maintenance therapy of adult patients with Gaucher disease type 1.
Kishnani PS, DiRocco M, Kaplan P, Mehta A, Pastores GM, Smith SE, Puga AC, Lemay RM, Weinreb NJ. Kishnani PS, et al. Among authors: lemay rm. Mol Genet Metab. 2009 Apr;96(4):164-70. doi: 10.1016/j.ymgme.2008.12.015. Epub 2009 Feb 4. Mol Genet Metab. 2009. PMID: 19195916 Clinical Trial.
Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry.
Wilcox WR, Oliveira JP, Hopkin RJ, Ortiz A, Banikazemi M, Feldt-Rasmussen U, Sims K, Waldek S, Pastores GM, Lee P, Eng CM, Marodi L, Stanford KE, Breunig F, Wanner C, Warnock DG, Lemay RM, Germain DP; Fabry Registry. Wilcox WR, et al. Among authors: lemay rm. Mol Genet Metab. 2008 Feb;93(2):112-28. doi: 10.1016/j.ymgme.2007.09.013. Epub 2007 Nov 26. Mol Genet Metab. 2008. PMID: 18037317
Risk factors for severe clinical events in male and female patients with Fabry disease treated with agalsidase beta enzyme replacement therapy: Data from the Fabry Registry.
Hopkin RJ, Cabrera G, Charrow J, Lemay R, Martins AM, Mauer M, Ortiz A, Patel MR, Sims K, Waldek S, Warnock DG, Wilcox WR. Hopkin RJ, et al. Mol Genet Metab. 2016 Sep;119(1-2):151-9. doi: 10.1016/j.ymgme.2016.06.007. Epub 2016 Jun 13. Mol Genet Metab. 2016. PMID: 27510433 Free article. Clinical Trial.
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. 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.
Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup.
Germain DP, Oliveira JP, Bichet DG, Yoo HW, Hopkin RJ, Lemay R, Politei J, Wanner C, Wilcox WR, Warnock DG. Germain DP, et al. J Med Genet. 2020 Aug;57(8):542-551. doi: 10.1136/jmedgenet-2019-106467. Epub 2020 Mar 11. J Med Genet. 2020. PMID: 32161151 Free PMC article.
Prognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry Registry.
Wanner C, Oliveira JP, Ortiz A, Mauer M, Germain DP, Linthorst GE, Serra AL, Maródi L, Mignani R, Cianciaruso B, Vujkovac B, Lemay R, Beitner-Johnson D, Waldek S, Warnock DG. Wanner C, et al. Clin J Am Soc Nephrol. 2010 Dec;5(12):2220-8. doi: 10.2215/CJN.04340510. Epub 2010 Sep 2. Clin J Am Soc Nephrol. 2010. PMID: 20813854 Free PMC 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: lemay rm. JIMD Rep. 2018;38:45-51. doi: 10.1007/8904_2017_28. Epub 2017 May 17. JIMD Rep. 2018. PMID: 28510034 Free PMC article.
11 results