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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. Diagnostics (Basel). 2020 Mar 16;10(3):161. doi: 10.3390/diagnostics10030161. Diagnostics (Basel). 2020. PMID: 32188113 Free PMC article. Review.
Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil.
Bravo H, Neto EC, Schulte J, Pereira J, Filho CS, Bittencourt F, Sebastião F, Bender F, de Magalhães APS, Guidobono R, Trapp FB, Michelin-Tirelli K, Souza CFM, Rojas Málaga D, Pasqualim G, Brusius-Facchin AC, Giugliani R. Bravo H, et al. Mol Genet Metab Rep. 2017 Jul 4;12:92-97. doi: 10.1016/j.ymgmr.2017.06.006. eCollection 2017 Sep. Mol Genet Metab Rep. 2017. PMID: 28721335 Free PMC article.
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. 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.
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.
Diagnosis of Mucopolysaccharidoses.
Kubaski F, de Oliveira Poswar F, Michelin-Tirelli K, Burin MG, Rojas-Málaga D, Brusius-Facchin AC, Leistner-Segal S, Giugliani R. Kubaski F, et al. Among authors: michelin tirelli k. Diagnostics (Basel). 2020 Mar 22;10(3):172. doi: 10.3390/diagnostics10030172. Diagnostics (Basel). 2020. PMID: 32235807 Free PMC article. Review.
24 results