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Page 1
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.
Frequency of anti-MOG antibodies in serum and CSF of patients with possible autoimmune encephalitis: Results from a Brazilian multicentric study.
de Freitas Dias B, Toso FF, Barreto MESF, Dellavance A, Thomaz RB, Kowacs PA, Teive H, Spitz M, Juliano AFB, Rocha LJA, Granja VNT, Braga-Neto P, Nóbrega PR, Oliveira-Filho J, Dias RM, Amoras JAP, Pereira RBR, Júnior COG, Maia FM, Santos ML, de Melo ES, Júnior AWDN, Lin K, Paolilo RB, Krueger MB, Barsottini OGP, Endmayr V, Andrade LEC, Hoftberger R, Dutra LA. de Freitas Dias B, et al. Among authors: santos ml. Mult Scler Relat Disord. 2024 Dec;92:106171. doi: 10.1016/j.msard.2024.106171. Epub 2024 Nov 14. Mult Scler Relat Disord. 2024. PMID: 39579646
Enhancing metabolic and inflammatory status in insulin-resistant rats: Acute intervention with cocoa flavanols and submaximal aerobic exercise activates intracellular signaling pathways for glucose metabolism.
Melo BP, Zacarias AC, Oliveira JCC, de Souza Cordeiro LM, Horta NAC, Poletini MO, Tonoli C, Dos Santos ML, Wanner SP, Meeusen R, Heyman E, Avelar GF, Soares DD. Melo BP, et al. Among authors: dos santos ml. Clin Nutr. 2024 Dec 7;44:166-177. doi: 10.1016/j.clnu.2024.11.043. Online ahead of print. Clin Nutr. 2024. PMID: 39675158
Heparan sulfate in cerebrospinal fluid as a biomarker to assess disease severity and for treatment monitoring in patients with Mucopolysaccharidosis Type II: a position statement.
Giugliani R, de Siqueira ACM, Santos ES, Leão EKEA, Carvalho GDS, Santos MLSF, Raskin S, Martins AM. Giugliani R, et al. Among authors: santos mlsf. Orphanet J Rare Dis. 2024 Nov 26;19(1):436. doi: 10.1186/s13023-024-03463-9. Orphanet J Rare Dis. 2024. PMID: 39593190 Free PMC article.
Amanita-Induced Hepatitis.
Ribeiro E, Silva S, Batista M, Santos ML, Gonçalves A. Ribeiro E, et al. Among authors: santos ml. Cureus. 2024 Oct 24;16(10):e72325. doi: 10.7759/cureus.72325. eCollection 2024 Oct. Cureus. 2024. PMID: 39583449 Free PMC article.
418 results