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Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome.
Josahkian JA, Brusius-Facchin AC, Netto ABO, Leistner-Segal S, Málaga DR, Burin MG, Michelin-Tirelli K, Trapp FB, Cardoso-Dos-Santos AC, Ribeiro EM, Kim CA, de Siqueira ACM, Santos ML, do Valle DA, da Silva RTB, Horovitz DDG, de Medeiros PFV, de Souza CFM, Giuliani LR, Miguel DSCG, Santana-da-Silva LC, Galera MF, Giugliani R. Josahkian JA, et al. Among authors: santos ml. Am J Med Genet C Semin Med Genet. 2021 Sep;187(3):349-356. doi: 10.1002/ajmg.c.31915. Epub 2021 May 7. Am J Med Genet C Semin Med Genet. 2021. PMID: 33960103
[Enzyme replacement therapy for mucopolysaccharidoses I, II and VI: recommendations from a group of Brazilian F experts].
Giugliani R, Federhen A, Muñoz Rojas MV, Vieira TA, Artigalás O, Pinto LL, Azevedo AC, Acosta AX, Bomfim C, Lourenço CM, Kim CA, Horovitz D, Souza DB, Norato D, Marinho D, Palhares D, Santos ES, Ribeiro E, Valadares ER, Guarany F, De Lucca GR, Pimentel H, Souza IN, Corrêa Neto J, Fraga JC, Góes JE, Cabral JM, Simeonato J, Llerena JC Jr, Jardim LB, Giuliani Lde R, Silva LC, Santos M, Moreira MA, Kerstenetzky M, Ribeiro M, Ruas N, Barrios P, Aranda P, Honjo R, Boy R, Costa R, Souza CF, Alcântara FF, Avilla SG, Fagondes S, Martins AM. Giugliani R, et al. Rev Assoc Med Bras (1992). 2010 May-Jun;56(3):271-7. doi: 10.1590/s0104-42302010000300009. Rev Assoc Med Bras (1992). 2010. PMID: 20676532 Free article. Portuguese.
Maple syrup urine disease in Brazil: a panorama of the last two decades.
Herber S, Schwartz IV, Nalin T, Oliveira Netto CB, Camelo Junior JS, Santos ML, Ribeiro EM, Schüler-Faccini L, Souza CF. Herber S, et al. Among authors: santos ml. J Pediatr (Rio J). 2015 May-Jun;91(3):292-8. doi: 10.1016/j.jped.2014.08.010. Epub 2014 Dec 12. J Pediatr (Rio J). 2015. PMID: 25512172 Free article.
Brazilian autoimmune encephalitis network (BrAIN): antibody profile and clinical characteristics from a multicenter study.
de Freitas Dias B, Fieni Toso F, Slhessarenko Fraife Barreto ME, de Araújo Gleizer R, Dellavance A, Kowacs PA, Teive H, Spitz M, Freire Borges Juliano A, Januzi de Almeida Rocha L, Braga-Neto P, Ribeiro Nóbrega P, Oliveira-Filho J, Maciel Dias R, de Oliveira Godeiro Júnior C, Martins Maia F, Barbosa Thomaz R, Santos ML, Sousa de Melo E, da Nóbrega Júnior AW, Lin K, Graziani Povoas Barsottini O, Endmayr V, Coelho Andrade LE, Höftberger R, Almeida Dutra L. de Freitas Dias B, et al. Among authors: santos ml. Front Immunol. 2023 Oct 25;14:1256480. doi: 10.3389/fimmu.2023.1256480. eCollection 2023. Front Immunol. 2023. PMID: 37954587 Free PMC article.
Neurodevelopmental disorder associated with gene ARF3: A case report.
Dos Santos Henrique S, França MJ, Silva Junior RC, Santos MLSF, do Valle DA. Dos Santos Henrique S, et al. Among authors: santos mlsf. Am J Med Genet A. 2024 May 7:e63658. doi: 10.1002/ajmg.a.63658. Online ahead of print. Am J Med Genet A. 2024. PMID: 38712921
Factors influencing the positivity of diagnostic tests for congenital syphilis.
Ribeiro RS, Sasaki NSGMDS, Queiroz AMA, Ferreira ACM, Segura GS, Santos MLSG, Souza LH, Lourenção LG. Ribeiro RS, et al. Among authors: santos mlsg. Rev Assoc Med Bras (1992). 2024 Apr 22;70(5):e20231006. doi: 10.1590/1806-9282.20231006. eCollection 2024. Rev Assoc Med Bras (1992). 2024. PMID: 38656062 Free PMC article.
396 results