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

Year Number of Results
1997 1
1998 1
1999 2
2002 2
2004 6
2005 3
2006 2
2007 2
2008 3
2009 3
2010 1
2011 7
2012 3
2013 12
2014 12
2015 6
2016 7
2017 2
2018 4
2019 7
2020 5
2021 19
2022 14
2023 10
2024 5

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122 results

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Page 1
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: ezgu f. 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.
Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B).
Geberhiwot T, Wasserstein M, Wanninayake S, Bolton SC, Dardis A, Lehman A, Lidove O, Dawson C, Giugliani R, Imrie J, Hopkin J, Green J, de Vicente Corbeira D, Madathil S, Mengel E, Ezgü F, Pettazzoni M, Sjouke B, Hollak C, Vanier MT, McGovern M, Schuchman E. Geberhiwot T, et al. Among authors: ezgu f. Orphanet J Rare Dis. 2023 Apr 17;18(1):85. doi: 10.1186/s13023-023-02686-6. Orphanet J Rare Dis. 2023. PMID: 37069638 Free PMC article.
Inborn Errors of Metabolism.
Ezgu F. Ezgu F. Adv Clin Chem. 2016;73:195-250. doi: 10.1016/bs.acc.2015.12.001. Epub 2016 Jan 23. Adv Clin Chem. 2016. PMID: 26975974 Review.
Co-Occurring Atypical Galactosemia and Wilson Disease.
Doğulu N, Kose E, Tuna Kirsaçlioğlu C, Ezgü FS, Kuloğlu Z, Kansu A, Eminoglu FT. Doğulu N, et al. Among authors: ezgu fs. Mol Syndromol. 2022 Dec;13(5):454-458. doi: 10.1159/000524004. Epub 2022 Apr 27. Mol Syndromol. 2022. PMID: 36588756 Free PMC article.
A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B.
Muschol N, Koehn A, von Cossel K, Okur I, Ezgu F, Harmatz P, de Castro Lopez MJ, Couce ML, Lin SP, Batzios S, Cleary M, Solano M, Nestrasil I, Kaufman B, Shaywitz AJ, Maricich SM, Kuca B, Kovalchin J, Zanelli E. Muschol N, et al. Among authors: ezgu f. J Clin Invest. 2023 Jan 17;133(2):e165076. doi: 10.1172/JCI165076. J Clin Invest. 2023. PMID: 36413418 Free PMC article. Clinical Trial.
122 results