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[Pathogenesis of lipid storage diseases].
Bandorowicz-Pikuła J, Pikuła S, Tylki-Szymańska A. Bandorowicz-Pikuła J, et al. Postepy Biochem. 2011;57(2):158-67. Postepy Biochem. 2011. PMID: 21913416 Review. Polish.
[Annexins in Niemann-Pick type C disease].
Buszewska ME, Strzelecka-Kiliszek A, Tylki-Szymańska A, Bandorowicz-Pikuła J. Buszewska ME, et al. Postepy Biochem. 2007;53(2):169-73. Postepy Biochem. 2007. PMID: 17969878 Review. Polish.
Treatment trials in Niemann-Pick type C disease.
Sitarska D, Tylki-Szymańska A, Ługowska A. Sitarska D, et al. 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.
Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study.
Mengel E, Bembi B, Del Toro M, Deodato F, Gautschi M, Grunewald S, Grønborg S, Héron B, Maier EM, Roubertie A, Santra S, Tylki-Szymanska A, Day S, Symonds T, Hudgens S, Patterson MC, Guldberg C, Ingemann L, Petersen NHT, Kirkegaard T, Í Dali C. Mengel E, et al. Orphanet J Rare Dis. 2020 Nov 23;15(1):328. doi: 10.1186/s13023-020-01616-0. Orphanet J Rare Dis. 2020. PMID: 33228797 Free PMC article.
269 results