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

Year Number of Results
1983 1
1985 1
1986 2
1987 2
1988 1
1992 1
1993 1
1994 1
1995 6
1996 7
1997 4
1998 5
1999 2
2000 3
2001 4
2002 4
2003 2
2004 4
2005 6
2006 4
2007 8
2008 10
2009 10
2010 15
2011 30
2012 22
2013 16
2014 15
2015 17
2016 8
2017 8
2018 18
2019 11
2020 21
2021 22
2022 0
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Article type
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245 results
Results by year
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Page 1
European expert consensus statement on therapeutic goals in Fabry disease.
Wanner C, Arad M, Baron R, Burlina A, Elliott PM, Feldt-Rasmussen U, Fomin VV, Germain DP, Hughes DA, Jovanovic A, Kantola I, Linhart A, Mignani R, Monserrat L, Namdar M, Nowak A, Oliveira JP, Ortiz A, Pieroni M, Spada M, Tylki-Szymańska A, Tøndel C, Viana-Baptista M, Weidemann F, Hilz MJ. Wanner C, et al. Among authors: tylki szymanska a. Mol Genet Metab. 2018 Jul;124(3):189-203. doi: 10.1016/j.ymgme.2018.06.004. Epub 2018 Jun 12. Mol Genet Metab. 2018. PMID: 30017653 Review.
Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease.
Biegstraaten M, Cox TM, Belmatoug N, Berger MG, Collin-Histed T, Vom Dahl S, Di Rocco M, Fraga C, Giona F, Giraldo P, Hasanhodzic M, Hughes DA, Iversen PO, Kiewiet AI, Lukina E, Machaczka M, Marinakis T, Mengel E, Pastores GM, Plöckinger U, Rosenbaum H, Serratrice C, Symeonidis A, Szer J, Timmerman J, Tylki-Szymańska A, Weisz Hubshman M, Zafeiriou DI, Zimran A, Hollak CEM. Biegstraaten M, et al. Among authors: tylki szymanska a. Blood Cells Mol Dis. 2018 Feb;68:203-208. doi: 10.1016/j.bcmd.2016.10.008. Epub 2016 Oct 24. Blood Cells Mol Dis. 2018. PMID: 28274788 Free article.
Adenylosuccinate lyase deficiency.
Jurecka A, Zikanova M, Kmoch S, Tylki-Szymańska A. Jurecka A, et al. Among authors: tylki szymanska a. J Inherit Metab Dis. 2015 Mar;38(2):231-42. doi: 10.1007/s10545-014-9755-y. Epub 2014 Aug 12. J Inherit Metab Dis. 2015. PMID: 25112391 Free PMC article. Review.
Treatment trials in Niemann-Pick type C disease.
Sitarska D, Tylki-Szymańska A, Ługowska A. Sitarska D, et al. Among authors: tylki szymanska a. Metab Brain Dis. 2021 Dec;36(8):2215-2221. doi: 10.1007/s11011-021-00842-0. Epub 2021 Oct 1. Metab Brain Dis. 2021. PMID: 34596813 Free PMC article. Review.
ATP6AP1-CDG: Follow-up and female phenotype.
Lipiński P, Rokicki D, Bogdańska A, Lesiak J, Lefeber DJ, Tylki-Szymańska A. Lipiński P, et al. Among authors: tylki szymanska a. JIMD Rep. 2020 Apr 9;53(1):80-82. doi: 10.1002/jmd2.12104. eCollection 2020 May. JIMD Rep. 2020. PMID: 32395412 Free PMC article.
245 results