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

Year Number of Results
2002 9
2003 10
2004 18
2005 13
2006 12
2007 8
2008 9
2009 10
2010 13
2011 16
2012 17
2013 15
2014 10
2015 8
2016 17
2017 13
2018 16
2019 16
2020 19
2021 21
2022 17
2023 15
2024 6

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266 results

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Page 1
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. Among authors: sakai n. 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.
Acyl Fluorides in Late-Transition-Metal Catalysis.
Ogiwara Y, Sakai N. Ogiwara Y, et al. Among authors: sakai n. Angew Chem Int Ed Engl. 2020 Jan 7;59(2):574-594. doi: 10.1002/anie.201902805. Epub 2019 Oct 31. Angew Chem Int Ed Engl. 2020. PMID: 30969455 Review.
Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes.
Hughes DA, Bichet DG, Giugliani R, Hopkin RJ, Krusinska E, Nicholls K, Olivotto I, Feldt-Rasmussen U, Sakai N, Skuban N, Sunder-Plassmann G, Torra R, Wilcox WR. Hughes DA, et al. Among authors: sakai n. J Med Genet. 2023 Jul;60(7):722-731. doi: 10.1136/jmg-2022-108669. Epub 2022 Dec 21. J Med Genet. 2023. PMID: 36543533 Free PMC article.
Blood glucose trends in glycogen storage disease type Ia: A cross-sectional study.
Fukuda T, Ito T, Hamazaki T, Inui A, Ishige M, Kagawa R, Sakai N, Watanabe Y, Kobayashi H, Wasaki Y, Taura J, Imamura Y, Tsukiuda T, Nakamura K. Fukuda T, et al. Among authors: sakai n. J Inherit Metab Dis. 2023 Jul;46(4):618-633. doi: 10.1002/jimd.12610. Epub 2023 Jun 14. J Inherit Metab Dis. 2023. PMID: 37114839
Craniofacial and dental characteristics of three Japanese individuals with genetically diagnosed SATB2-associated syndrome.
Kurosaka H, Yamamoto S, Hirasawa K, Yanagishita T, Fujioka K, Yagasaki H, Nagata M, Ishihara Y, Yonei A, Asano Y, Nagata N, Tsujimoto T, Inubushi T, Yamamoto T, Sakai N, Yamashiro T. Kurosaka H, et al. Among authors: sakai n. Am J Med Genet A. 2023 Jul;191(7):1984-1989. doi: 10.1002/ajmg.a.63225. Epub 2023 May 4. Am J Med Genet A. 2023. PMID: 37141439
266 results