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

Year Number of Results
2002 3
2003 2
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2005 5
2006 3
2007 6
2008 6
2009 8
2010 14
2011 27
2012 21
2013 13
2014 15
2015 17
2016 7
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2018 17
2019 10
2020 21
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2022 12
2023 5
2024 0

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Page 1
Venglustat, an orally administered glucosylceramide synthase inhibitor: Assessment over 3 years in adult males with classic Fabry disease in an open-label phase 2 study and its extension study.
Deegan PB, Goker-Alpan O, Geberhiwot T, Hopkin RJ, Lukina E, Tylki-Szymanska A, Zaher A, Sensinger C, Gaemers SJM, Modur V, Thurberg BL, Sharma J, Najafian B, Mauer M, DasMahapatra P, Wilcox WR, Germain DP. Deegan PB, et al. Among authors: tylki szymanska a. Mol Genet Metab. 2023 Feb;138(2):106963. doi: 10.1016/j.ymgme.2022.11.002. Epub 2022 Nov 9. Mol Genet Metab. 2023. PMID: 36481125 Free PMC article. Clinical Trial.
Editorial: Prevention, diagnosis and treatment of rare disorders.
Cox TM, Tylki-Szymańska A, Aymé S, Dooms M. Cox TM, et al. Among authors: tylki szymanska a. Front Pharmacol. 2022 Sep 28;13:1026064. doi: 10.3389/fphar.2022.1026064. eCollection 2022. Front Pharmacol. 2022. PMID: 36249823 Free PMC article. No abstract available.
Mucopolysaccharidosis-Plus Syndrome: Report on a Polish Patient with a Novel VPS33A Variant with Comparison with Other Described Patients.
Lipiński P, Szczałuba K, Buda P, Zakharova EY, Baydakova G, Ługowska A, Różdzyńska-Świątkowska A, Cyske Z, Węgrzyn G, Pollak A, Płoski R, Tylki-Szymańska A. Lipiński P, et al. Among authors: tylki szymanska a. Int J Mol Sci. 2022 Sep 28;23(19):11424. doi: 10.3390/ijms231911424. Int J Mol Sci. 2022. PMID: 36232726 Free PMC article.
202 results