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2008 2
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Page 1
Cell biology and function of neuronal ceroid lipofuscinosis-related proteins.
Kollmann K, Uusi-Rauva K, Scifo E, Tyynelä J, Jalanko A, Braulke T. Kollmann K, et al. Among authors: uusi rauva k. Biochim Biophys Acta. 2013 Nov;1832(11):1866-81. doi: 10.1016/j.bbadis.2013.01.019. Epub 2013 Feb 9. Biochim Biophys Acta. 2013. PMID: 23402926 Free article. Review.
Quantitative analysis of PPT1 interactome in human neuroblastoma cells.
Scifo E, Szwajda A, Soliymani R, Pezzini F, Bianchi M, Dapkunas A, Dębski J, Uusi-Rauva K, Dadlez M, Gingras AC, Tyynelä J, Simonati A, Jalanko A, Baumann MH, Lalowski M. Scifo E, et al. Among authors: uusi rauva k. Data Brief. 2015 Jun 12;4:207-16. doi: 10.1016/j.dib.2015.05.016. eCollection 2015 Sep. Data Brief. 2015. PMID: 26217791 Free PMC article.
Screening for potential undiagnosed Gaucher disease patients: Utilisation of the Gaucher earlier diagnosis consensus point-scoring system (GED-C PSS) in conjunction with electronic health record data, tissue specimens, and small nucleotide polymorphism (SNP) genotype data available in Finnish biobanks.
Pehrsson M, Heikkinen H, Wartiovaara-Kautto U, Mäntylahti S, Bäckström P, Lassenius MI, Uusi-Rauva K, Carpén O, Elomaa K. Pehrsson M, et al. Among authors: uusi rauva k. Mol Genet Metab Rep. 2022 Aug 27;33:100911. doi: 10.1016/j.ymgmr.2022.100911. eCollection 2022 Dec. Mol Genet Metab Rep. 2022. PMID: 36092251 Free PMC article.
The Gaucher earlier diagnosis consensus point-scoring system (GED-C PSS): Evaluation of a prototype in Finnish Gaucher disease patients and feasibility of screening retrospective electronic health record data for the recognition of potential undiagnosed patients in Finland.
Savolainen MJ, Karlsson A, Rohkimainen S, Toppila I, Lassenius MI, Falconi CV, Uusi-Rauva K, Elomaa K. Savolainen MJ, et al. Among authors: uusi rauva k. Mol Genet Metab Rep. 2021 Feb 9;27:100725. doi: 10.1016/j.ymgmr.2021.100725. eCollection 2021 Jun. Mol Genet Metab Rep. 2021. PMID: 33604241 Free PMC article.
15 results