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324 results

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Page 1
Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus.
Moreno-Martinez D, Aguiar P, Auray-Blais C, Beck M, Bichet DG, Burlina A, Cole D, Elliott P, Feldt-Rasmussen U, Feriozzi S, Fletcher J, Giugliani R, Jovanovic A, Kampmann C, Langeveld M, Lidove O, Linhart A, Mauer M, Moon JC, Muir A, Nowak A, Oliveira JP, Ortiz A, Pintos-Morell G, Politei J, Rozenfeld P, Schiffmann R, Svarstad E, Talbot AS, Thomas M, Tøndel C, Warnock D, West ML, Hughes DA. Moreno-Martinez D, et al. Among authors: warnock d. Mol Genet Metab. 2021 Apr;132(4):234-243. doi: 10.1016/j.ymgme.2021.02.001. Epub 2021 Feb 20. Mol Genet Metab. 2021. PMID: 33642210
Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry.
Ortiz A, Abiose A, Bichet DG, Cabrera G, Charrow J, Germain DP, Hopkin RJ, Jovanovic A, Linhart A, Maruti SS, Mauer M, Oliveira JP, Patel MR, Politei J, Waldek S, Wanner C, Yoo HW, Warnock DG. Ortiz A, et al. Among authors: warnock dg. J Med Genet. 2016 Jul;53(7):495-502. doi: 10.1136/jmedgenet-2015-103486. Epub 2016 Mar 18. J Med Genet. 2016. PMID: 26993266 Free PMC article. Clinical Trial.
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. Among authors: warnock dg. 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.
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: warnock dg. 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
Screening, diagnosis, and management of patients with Fabry disease: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference.
Schiffmann R, Hughes DA, Linthorst GE, Ortiz A, Svarstad E, Warnock DG, West ML, Wanner C; Conference Participants. Schiffmann R, et al. Among authors: warnock dg. Kidney Int. 2017 Feb;91(2):284-293. doi: 10.1016/j.kint.2016.10.004. Epub 2016 Dec 18. Kidney Int. 2017. PMID: 27998644 Free article.
324 results