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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
2004 3
2005 5
2006 3
2007 6
2008 6
2009 8
2010 14
2011 27
2012 21
2013 13
2014 15
2015 17
2016 7
2017 8
2018 17
2019 10
2020 21
2021 23
2022 12
2023 5
2024 0

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202 results

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Page 1
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.
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.
Efficacy and safety of arimoclomol in Niemann-Pick disease type C: Results from a double-blind, randomised, placebo-controlled, multinational phase 2/3 trial of a novel treatment.
Mengel E, Patterson MC, Da Riol RM, Del Toro M, Deodato F, Gautschi M, Grunewald S, Grønborg S, Harmatz P, Héron B, Maier EM, Roubertie A, Santra S, Tylki-Szymanska A, Day S, Andreasen AK, Geist MA, Havnsøe Torp Petersen N, Ingemann L, Hansen T, Blaettler T, Kirkegaard T, Í Dali C. Mengel E, et al. Among authors: tylki szymanska a. J Inherit Metab Dis. 2021 Nov;44(6):1463-1480. doi: 10.1002/jimd.12428. Epub 2021 Sep 7. J Inherit Metab Dis. 2021. PMID: 34418116 Free PMC article. Clinical Trial.
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.
Editorial: Inherited Protein Glycosylation Defects in Humans.
Jezela-Stanek A, Stepien KM, Tylki-Szymanska A. Jezela-Stanek A, et al. Among authors: tylki szymanska a. Front Genet. 2022 Mar 14;13:851438. doi: 10.3389/fgene.2022.851438. eCollection 2022. Front Genet. 2022. PMID: 35368693 Free PMC article. No abstract available.
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.
Gastroenterological complications of Anderson-Fabry disease.
Buda P, Książyk J, Tylki-Szymanska A. Buda P, et al. Among authors: tylki szymanska a. Curr Pharm Des. 2013;19(33):6009-13. doi: 10.2174/13816128113199990347. Curr Pharm Des. 2013. PMID: 23448457 Review.
202 results