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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: germain dp. 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.
Long-term safety and efficacy of enzyme replacement therapy for Fabry disease.
Wilcox WR, Banikazemi M, Guffon N, Waldek S, Lee P, Linthorst GE, Desnick RJ, Germain DP; International Fabry Disease Study Group. Wilcox WR, et al. Among authors: germain dp. Am J Hum Genet. 2004 Jul;75(1):65-74. doi: 10.1086/422366. Epub 2004 May 20. Am J Hum Genet. 2004. PMID: 15154115 Free PMC article. 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: germain dp. 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
A validated disease severity scoring system for Fabry disease.
Giannini EH, Mehta AB, Hilz MJ, Beck M, Bichet DG, Brady RO, West M, Germain DP, Wanner C, Waldek S, Clarke JT, Mengel E, Strotmann JM, Warnock DG, Linhart A. Giannini EH, et al. Among authors: germain dp. Mol Genet Metab. 2010 Mar;99(3):283-90. doi: 10.1016/j.ymgme.2009.10.178. Epub 2009 Oct 30. Mol Genet Metab. 2010. PMID: 19951842
295 results