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Cytokines levels in late-diagnosed Classical Homocystinuria patients.
Poloni S, Siebert M, Donis KC, Weber Hoss GR, Blom HJ, Schwartz IVD. Poloni S, et al. Among authors: siebert m. Mol Genet Metab Rep. 2018 Sep 28;17:43-44. doi: 10.1016/j.ymgmr.2018.09.003. eCollection 2018 Dec. Mol Genet Metab Rep. 2018. PMID: 30294544 Free PMC article. No abstract available.
Liver involvement in patients with Gaucher disease types I and III.
Starosta RT, Vairo FPE, Dornelles AD, Basgalupp SP, Siebert M, Pedroso MLA, Cerski CTS, Álvares-da-Silva MR, Schwartz IVD. Starosta RT, et al. Among authors: siebert m. Mol Genet Metab Rep. 2020 Jan 7;22:100564. doi: 10.1016/j.ymgmr.2019.100564. eCollection 2020 Mar. Mol Genet Metab Rep. 2020. PMID: 32099816 Free PMC article.
Assessment of cellular cobalamin metabolism in Gaucher disease.
Basgalupp SP, Siebert M, Ferreira C, Behringer S, Spiekerkoetter U, Hannibal L, Schwartz IVD. Basgalupp SP, et al. Among authors: siebert m. BMC Med Genet. 2020 Jan 13;21(1):12. doi: 10.1186/s12881-020-0947-z. BMC Med Genet. 2020. PMID: 31931749 Free PMC article.
Genome Editing Tools for Lysosomal Storage Disorders.
Gonzalez EA, Nader H, Siebert M, Suarez DA, Alméciga-Díaz CJ, Baldo G. Gonzalez EA, et al. Among authors: siebert m. Adv Exp Med Biol. 2023;1429:127-155. doi: 10.1007/978-3-031-33325-5_8. Adv Exp Med Biol. 2023. PMID: 37486520
GBA1 variants in Brazilian Gaucher disease patients.
Basgalupp SP, Altmann V, Vairo FPE, Schwartz IVD, Siebert M; MilitaoBrazilian Collaborative Group on Gaucher Disease. Basgalupp SP, et al. Among authors: siebert m. Mol Genet Metab Rep. 2023 Sep 9;37:101006. doi: 10.1016/j.ymgmr.2023.101006. eCollection 2023 Dec. Mol Genet Metab Rep. 2023. PMID: 38053927 Free PMC article.
Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders.
Málaga DR, Brusius-Facchin AC, Siebert M, Pasqualim G, Saraiva-Pereira ML, Souza CFM, Schwartz IVD, Matte U, Giugliani R. Málaga DR, et al. Among authors: siebert m. Genet Mol Biol. 2019;42(1 suppl 1):197-206. doi: 10.1590/1678-4685-GMB-2018-0092. Epub 2019 Apr 11. Genet Mol Biol. 2019. PMID: 30985853 Free PMC article.
300 results