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

Year Number of Results
2002 5
2004 2
2005 5
2006 6
2007 6
2008 3
2009 12
2010 22
2011 10
2012 11
2013 7
2014 19
2015 10
2016 12
2017 12
2018 11
2019 12
2020 11
2021 11
2022 14
2023 7
2024 2

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178 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.
Response to Juang et al.
Hsu CL, Dzhagalov IL, Niu DM. Hsu CL, et al. Among authors: niu dm. Genet Med. 2019 Aug;21(8):1892-1893. doi: 10.1038/s41436-019-0437-x. Epub 2019 Jan 22. Genet Med. 2019. PMID: 30666049 Free article. No abstract available.
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.
The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease.
Germain DP, Moiseev S, Suárez-Obando F, Al Ismaili F, Al Khawaja H, Altarescu G, Barreto FC, Haddoum F, Hadipour F, Maksimova I, Kramis M, Nampoothiri S, Nguyen KN, Niu DM, Politei J, Ro LS, Vu Chi D, Chen N, Kutsev S. Germain DP, et al. Among authors: niu dm. Mol Genet Genomic Med. 2021 May;9(5):e1666. doi: 10.1002/mgg3.1666. Epub 2021 Apr 9. Mol Genet Genomic Med. 2021. PMID: 33835733 Free PMC article. Review.
Functional independence of Taiwanese patients with mucopolysaccharidoses.
Lee CL, Lin HY, Chuang CK, Chiu HC, Tu RY, Huang YH, Hwu WL, Tsai FJ, Chiu PC, Niu DM, Chen YJ, Chao MC, Chang TM, Lin JL, Chang CY, Kao YC, Lin SP. Lee CL, et al. Among authors: niu dm. Mol Genet Genomic Med. 2019 Aug;7(8):e790. doi: 10.1002/mgg3.790. Epub 2019 Jun 18. Mol Genet Genomic Med. 2019. PMID: 31215158 Free PMC article.
178 results