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203 results

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Page 1
Glucocerebrosidase gene variants in parkinsonian patients with Machado Joseph/spinocerebellar ataxia 3.
Siebert M, Donis KC, Socal M, Rieder CR, Emmel VE, Vairo F, Michelin-Tirelli K, França M Jr, D'Abreu AC, Bettencourt C, Lima M, Lopes Cendes I, Saraiva-Pereira ML, Jardim LB. Siebert M, et al. Among authors: vairo f. Parkinsonism Relat Disord. 2012 Feb;18(2):185-90. doi: 10.1016/j.parkreldis.2011.09.024. Epub 2011 Oct 15. Parkinsonism Relat Disord. 2012. PMID: 22001711
Lysosomal diseases: Overview on current diagnosis and treatment.
Poswar FO, Vairo F, Burin M, Michelin-Tirelli K, Brusius-Facchin AC, Kubaski F, Souza CFM, Baldo G, Giugliani R. Poswar FO, et al. Among authors: vairo f. Genet Mol Biol. 2019;42(1 suppl 1):165-177. doi: 10.1590/1678-4685-GMB-2018-0159. Epub 2019 Apr 25. Genet Mol Biol. 2019. PMID: 31067291 Free PMC article.
Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma.
Sperb-Ludwig F, Alegra T, Velho RV, Ludwig N, Siebert M, Jobim M, Vairo F, Schwartz IVD. Sperb-Ludwig F, et al. Among authors: vairo f. Genet Mol Biol. 2019 Jul-Sep;42(3):571-573. doi: 10.1590/1678-4685-GMB-2018-0246. Epub 2019 Nov 14. Genet Mol Biol. 2019. PMID: 31188938 Free PMC article.
Rare GBA1 genotype associated with severe bone disease in Gaucher disease type 1.
d'Avila Paskulin L, Starosta RT, Zizemer VS, Basgalupp S, Bertholdo D, Vairo FPE, Siebert M, Michelin-Tirelli K, Schwartz IVD. d'Avila Paskulin L, et al. Mol Genet Metab Rep. 2019 Nov 22;21:100544. doi: 10.1016/j.ymgmr.2019.100544. eCollection 2019 Dec. Mol Genet Metab Rep. 2019. PMID: 31799121 Free PMC article.
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. 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.
Mucopolysaccharidosis Type I.
Kubaski F, de Oliveira Poswar F, Michelin-Tirelli K, Matte UDS, Horovitz DD, Barth AL, Baldo G, Vairo F, Giugliani R. Kubaski F, et al. Among authors: vairo f. Diagnostics (Basel). 2020 Mar 16;10(3):161. doi: 10.3390/diagnostics10030161. Diagnostics (Basel). 2020. PMID: 32188113 Free PMC article. Review.
203 results