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

Year Number of Results
1990 1
1995 1
1996 3
1997 3
1998 1
2000 2
2001 1
2002 5
2003 1
2005 4
2006 2
2007 3
2008 3
2009 3
2010 3
2011 3
2012 1
2013 4
2014 5
2015 6
2016 3
2017 5
2018 4
2019 4
2020 2
2021 3
2022 2
2023 2
2024 0

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69 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: lugowska 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.
Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting.
Pompe Disease Diagnostic Working Group; Winchester B, Bali D, Bodamer OA, Caillaud C, Christensen E, Cooper A, Cupler E, Deschauer M, Fumić K, Jackson M, Kishnani P, Lacerda L, Ledvinová J, Lugowska A, Lukacs Z, Maire I, Mandel H, Mengel E, Müller-Felber W, Piraud M, Reuser A, Rupar T, Sinigerska I, Szlago M, Verheijen F, van Diggelen OP, Wuyts B, Zakharova E, Keutzer J. Pompe Disease Diagnostic Working Group, et al. Among authors: lugowska a. Mol Genet Metab. 2008 Mar;93(3):275-81. doi: 10.1016/j.ymgme.2007.09.006. Epub 2007 Dec 19. Mol Genet Metab. 2008. PMID: 18078773
Prevalence rates of mucopolysaccharidoses in Poland.
Jurecka A, Ługowska A, Golda A, Czartoryska B, Tylki-Szymańska A. Jurecka A, et al. Among authors: lugowska a. J Appl Genet. 2015 May;56(2):205-10. doi: 10.1007/s13353-014-0262-5. Epub 2014 Dec 4. J Appl Genet. 2015. PMID: 25472774 Free PMC article.
Elevated LysoGb3 Concentration in the Neuronopathic Forms of Mucopolysaccharidoses.
Baydakova G, Ilyushkina A, Gaffke L, Pierzynowska K, Bychkov I, Ługowska A, Wegrzyn G, Tylki-Szymanska A, Zakharova E. Baydakova G, et al. Among authors: lugowska a. Diagnostics (Basel). 2020 Mar 13;10(3):155. doi: 10.3390/diagnostics10030155. Diagnostics (Basel). 2020. PMID: 32183018 Free PMC article.
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: lugowska 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.
69 results