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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. Diagnostics (Basel). 2020 Mar 22;10(3):172. doi: 10.3390/diagnostics10030172. Diagnostics (Basel). 2020. PMID: 32235807 Free PMC article. Review.
Population medical genetics: translating science to the community.
Giugliani R, Bender F, Couto R, Bochernitsan A, Brusius-Facchin AC, Burin M, Amorim T, Acosta AX, Purificação A, Leistner-Segal S, Saraiva-Pereira ML, Jardim LB, Matte U, Riegel M, Cardoso-Dos-Santos AC, Rodrigues G, Oliveira MZ, Tagliani-Ribeiro A, Heck S, Dresch V, Schuler-Faccini L, Kubaski F. Giugliani R, et al. Genet Mol Biol. 2019;42(1 suppl 1):312-320. doi: 10.1590/1678-4685-GMB-2018-0096. Epub 2019 Apr 11. Genet Mol Biol. 2019. PMID: 30985854 Free PMC article.
Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy.
Kubaski F, Herbst ZM, Burin MG, Michelin-Tirelli K, Trapp FB, Gus R, Netto ABO, Brusius-Facchin AC, Leistner-Segal S, Sanseverino MT, de Souza CMF, Wilke MVMB, Oliveira T, Magalhães JAA, Giugliani R. Kubaski F, et al. Among authors: brusius facchin ac. JIMD Rep. 2022 Jan 19;63(2):162-167. doi: 10.1002/jmd2.12270. eCollection 2022 Mar. JIMD Rep. 2022. PMID: 35281662 Free PMC article.
38 results