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Page 1
Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions.
Josahkian JA, Trapp FB, Burin MG, Michelin-Tirelli K, Magalhães APPS, Sebastião FM, Bender F, Mari JF, Brusius-Facchin AC, Leistner-Segal S, Málaga DR, Giugliani R. Josahkian JA, et al. Among authors: sebastiao fm. Genet Mol Biol. 2021 Jan 27;44(1):e20200138. doi: 10.1590/1678-4685-GMB-2020-0138. eCollection 2021. Genet Mol Biol. 2021. PMID: 33503199 Free PMC article.
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.
Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center.
Magalhães APPS, Burin MG, Souza CFM, de Bitencourt FH, Sebastião FM, Silva TO, Vairo FPE, Schwartz IVD. Magalhães APPS, et al. Among authors: sebastiao fm. J Pediatr (Rio J). 2020 Nov-Dec;96(6):710-716. doi: 10.1016/j.jped.2019.05.008. Epub 2019 Oct 31. J Pediatr (Rio J). 2020. PMID: 31677975 Free PMC article.
Follow-up of pre-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1 and analysis of their lysosomal enzyme profiles in the CSF.
Wilke MVMB, Poswar F, Borelli WV, Michelin Tirelli K, Randon DN, Lopes FF, Pasetto FB, Sebastião FM, Iop GD, Faqueti L, da Silva LA, Kubaski F, Schuh AFS, Giugliani R, Schwartz IVD. Wilke MVMB, et al. Among authors: sebastiao fm. Orphanet J Rare Dis. 2023 Oct 2;18(1):309. doi: 10.1186/s13023-023-02875-3. Orphanet J Rare Dis. 2023. PMID: 37784132 Free PMC article.
Cytokine profile and cholesterol levels in patients with Niemann-Pick type C disease presenting neurological symptoms: in vivo effect of miglustat and in vitro effect of N-acetylcysteine and coenzyme Q10.
Hammerschmidt TG, Donida B, Faverzani JL, Moura AP, Dos Reis BG, Machado AZ, Kessler RG, Sebastião FM, Reinhardt LS, Moura DJ, Vargas CR. Hammerschmidt TG, et al. Among authors: sebastiao fm. Exp Cell Res. 2022 Jul 15;416(2):113175. doi: 10.1016/j.yexcr.2022.113175. Epub 2022 Apr 27. Exp Cell Res. 2022. PMID: 35487270