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Year Number of Results
1993 1
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1997 1
1999 1
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2002 5
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2005 7
2006 6
2007 6
2008 3
2009 14
2010 23
2011 13
2012 16
2013 8
2014 20
2015 10
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2019 12
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216 results

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Page 1
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: niu dm. 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.
Data-driven consideration of genetic disorders for global genomic newborn screening programs.
Minten T, Bick S, Adelson S, Gehlenborg N, Amendola LM, Boemer F, Coffey AJ, Encina N, Ferlini A, Kirschner J, Russell BE, Servais L, Sund KL, Taft RJ, Tsipouras P, Zouk H; ICoNS Gene List Contributors; Bick D; International Consortium on Newborn Sequencing (ICoNS); Green RC, Gold NB. Minten T, et al. Genet Med. 2025 Jul;27(7):101443. doi: 10.1016/j.gim.2025.101443. Epub 2025 May 9. Genet Med. 2025. PMID: 40357684
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: niu dm. 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.
Two decades of experience of the Fabry Outcome Survey provides further confirmation of the long-term effectiveness of agalsidase alfa enzyme replacement therapy.
Ramaswami U, Pintos-Morell G, Kampmann C, Nicholls K, Niu DM, Reisin R, West ML, Anagnostopoulou C, Botha J, Jazukeviciene D, Schenk J, Hughes DA, Giugliani R. Ramaswami U, et al. Among authors: niu dm. Mol Genet Metab Rep. 2025 Apr 11;43:101215. doi: 10.1016/j.ymgmr.2025.101215. eCollection 2025 Jun. Mol Genet Metab Rep. 2025. PMID: 40276560 Free PMC article.
216 results