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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 2
2000 1
2002 1
2005 1
2006 3
2007 1
2008 1
2009 3
2010 3
2011 8
2012 7
2013 5
2014 4
2015 8
2016 9
2017 8
2018 12
2019 10
2020 5
2021 1
2022 6
2023 7
2024 2

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90 results

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Page 1
Fabry Disease.
Mehta A, Hughes DA. Mehta A, et al. Among authors: hughes da. 2002 Aug 5 [updated 2024 Apr 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2002 Aug 5 [updated 2024 Apr 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301469 Free Books & Documents. Review.
Gaucher Disease.
Hughes DA, Pastores GM. Hughes DA, et al. 2000 Jul 27 [updated 2023 Dec 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2000 Jul 27 [updated 2023 Dec 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301446 Free Books & Documents. Review.
European expert consensus statement on therapeutic goals in Fabry disease.
Wanner C, Arad M, Baron R, Burlina A, Elliott PM, Feldt-Rasmussen U, Fomin VV, Germain DP, Hughes DA, Jovanovic A, Kantola I, Linhart A, Mignani R, Monserrat L, Namdar M, Nowak A, Oliveira JP, Ortiz A, Pieroni M, Spada M, Tylki-Szymańska A, Tøndel C, Viana-Baptista M, Weidemann F, Hilz MJ. Wanner C, et al. Among authors: hughes da. Mol Genet Metab. 2018 Jul;124(3):189-203. doi: 10.1016/j.ymgme.2018.06.004. Epub 2018 Jun 12. Mol Genet Metab. 2018. PMID: 30017653 Review.
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
Germain DP, Hughes DA, Nicholls K, Bichet DG, Giugliani R, Wilcox WR, Feliciani C, Shankar SP, Ezgu F, Amartino H, Bratkovic D, Feldt-Rasmussen U, Nedd K, Sharaf El Din U, Lourenco CM, Banikazemi M, Charrow J, Dasouki M, Finegold D, Giraldo P, Goker-Alpan O, Longo N, Scott CR, Torra R, Tuffaha A, Jovanovic A, Waldek S, Packman S, Ludington E, Viereck C, Kirk J, Yu J, Benjamin ER, Johnson F, Lockhart DJ, Skuban N, Castelli J, Barth J, Barlow C, Schiffmann R. Germain DP, et al. Among authors: hughes da. N Engl J Med. 2016 Aug 11;375(6):545-55. doi: 10.1056/NEJMoa1510198. N Engl J Med. 2016. PMID: 27509102 Free article. Clinical Trial.
Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry.
Beck M, Ramaswami U, Hernberg-Ståhl E, Hughes DA, Kampmann C, Mehta AB, Nicholls K, Niu DM, Pintos-Morell G, Reisin R, West ML, Schenk J, Anagnostopoulou C, Botha J, Giugliani R. Beck M, et al. Among authors: hughes da. Orphanet J Rare Dis. 2022 Jun 20;17(1):238. doi: 10.1186/s13023-022-02392-9. Orphanet J Rare Dis. 2022. PMID: 35725623 Free PMC article. Review.
Fabry disease.
Thomas AS, Hughes DA. Thomas AS, et al. Among authors: hughes da. Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1:88-101. Pediatr Endocrinol Rev. 2014. PMID: 25345090 Review.
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study.
Wallace EL, Goker-Alpan O, Wilcox WR, Holida M, Bernat J, Longo N, Linhart A, Hughes DA, Hopkin RJ, Tøndel C, Langeveld M, Giraldo P, Pisani A, Germain DP, Mehta A, Deegan PB, Molnar MJ, Ortiz D, Jovanovic A, Muriello M, Barshop BA, Kimonis V, Vujkovac B, Nowak A, Geberhiwot T, Kantola I, Knoll J, Waldek S, Nedd K, Karaa A, Brill-Almon E, Alon S, Chertkoff R, Rocco R, Sakov A, Warnock DG. Wallace EL, et al. Among authors: hughes da. J Med Genet. 2023 Nov 8:jmg-2023-109445. doi: 10.1136/jmg-2023-109445. Online ahead of print. J Med Genet. 2023. PMID: 37940383 Free article.
Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study.
Arends M, Biegstraaten M, Wanner C, Sirrs S, Mehta A, Elliott PM, Oder D, Watkinson OT, Bichet DG, Khan A, Iwanochko M, Vaz FM, van Kuilenburg ABP, West ML, Hughes DA, Hollak CEM. Arends M, et al. Among authors: hughes da. J Med Genet. 2018 May;55(5):351-358. doi: 10.1136/jmedgenet-2017-104863. Epub 2018 Feb 7. J Med Genet. 2018. PMID: 29437868 Free PMC article.
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. 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.
Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study.
Bichet DG, Hopkin RJ, Aguiar P, Allam SR, Chien YH, Giugliani R, Kallish S, Kineen S, Lidove O, Niu DM, Olivotto I, Politei J, Rakoski P, Torra R, Tøndel C, Hughes DA. Bichet DG, et al. Among authors: hughes da. Front Med (Lausanne). 2023 Sep 1;10:1220637. doi: 10.3389/fmed.2023.1220637. eCollection 2023. Front Med (Lausanne). 2023. PMID: 37727761 Free PMC article.
90 results