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Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study.
Germain DP, Brand E, Burlina A, Cecchi F, Garman SC, Kempf J, Laney DA, Linhart A, Maródi L, Nicholls K, Ortiz A, Pieruzzi F, Shankar SP, Waldek S, Wanner C, Jovanovic A. Germain DP, et al. Among authors: wanner c. Mol Genet Genomic Med. 2018 Apr 12;6(4):492-503. doi: 10.1002/mgg3.389. Online ahead of print. Mol Genet Genomic Med. 2018. PMID: 29649853 Free PMC article.
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: wanner c. 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
Kidney transplantation in patients with Fabry disease.
Cybulla M, Walter KN, Schwarting A, Divito R, Feriozzi S, Sunder-Plassmann G; European FOS Investigators Group. Cybulla M, et al. Transpl Int. 2009 Apr;22(4):475-81. doi: 10.1111/j.1432-2277.2008.00824.x. Epub 2009 Jan 22. Transpl Int. 2009. PMID: 19207191 Free article.
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: wanner c. 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
Enzyme replacement therapy for Fabry's disease.
Waldek S, Germain DP, Wanner C, Warnock DG. Waldek S, et al. Among authors: wanner c. Lancet. 2010 May 1;375(9725):1523; author reply 1523-4. doi: 10.1016/S0140-6736(10)60653-8. Lancet. 2010. PMID: 20435225 No abstract available.
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.
1,009 results