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419 results

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Page 1
Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment.
Giugliani R, Federhen A, Rojas MV, Vieira T, Artigalás O, Pinto LL, Azevedo AC, Acosta A, Bonfim C, Lourenço CM, Kim CA, Horovitz D, Bonfim D, Norato D, Marinho D, Palhares D, Santos ES, Ribeiro E, Valadares E, Guarany F, de Lucca GR, Pimentel H, de Souza IN, Correa J Sr, Fraga JC, Goes JE, Cabral JM, Simionato J, Llerena J Jr, Jardim L, Giuliani L, da Silva LC, Santos ML, Moreira MA, Kerstenetzky M, Ribeiro M, Ruas N, Barrios P, Aranda P, Honjo R, Boy R, Costa R, Souza C, Alcantara FF, Avilla SG, Fagondes S, Martins AM. Giugliani R, et al. Among authors: santos es, santos ml. Genet Mol Biol. 2010 Oct;33(4):589-604. doi: 10.1590/S1415-47572010005000093. Epub 2010 Dec 1. Genet Mol Biol. 2010. PMID: 21637564 Free PMC article.
Clinical and biochemical study of 29 Brazilian patients with metachromatic leukodystrophy.
Artigalás O, Lagranha VL, Saraiva-Pereira ML, Burin MG, Lourenço CM, van der Linden H Jr, Santos ML, Rosemberg S, Steiner CE, Kok F, de Souza CF, Jardim LB, Giugliani R, Schwartz IV. Artigalás O, et al. Among authors: santos ml. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S257-62. doi: 10.1007/s10545-010-9140-4. Epub 2010 Jul 2. J Inherit Metab Dis. 2010. PMID: 20596894
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. 2025 Jan;44:166-177. doi: 10.1016/j.clnu.2024.11.043. Epub 2024 Dec 7. Clin Nutr. 2025. 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.
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
Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network.
de Oliveira BM, Bernardi FA, Baiochi JF, Neiva MB, Artifon M, Vergara AA, Martins AM, Grumach AS, Acosta AX, Husny ASE, de Freitas Rodrigues Ribeiro B, Ramos CF, Steiner CE, Kim CA, Christofolini DM, Yamada DB, Carvalho EDF, Ribeiro EM, de Arruda Bastos F, Serpa FS, Brandão FR, Adjuto GMAF, Carvalho I, Saute JAM, Junior JCL, Bueno LSM, da Silva LCS, Santos MLSF, Costa MCM, Giusti MMCG, Galera MF, Filho MEC, de Andrade MDFC, De Oliveira Cardoso MT, de Menezes Ferreira MM, Zeny M, Caldato MCF, Sorte NB, Musolino NRC, de Medeiros PFV, Zen PRG, Da Silva RTB, Maia RE, Fock R, Almeida RES, Valle SOR, Amorim T, Teixeira TB, Prazeres VMG, de Faria Ferraz VE, Lima VC, Paiva WJM, Schwartz IVD, Alves D, Félix TM; Raras Network Group. de Oliveira BM, et al. Among authors: santos mlsf. Orphanet J Rare Dis. 2024 Oct 30;19(1):405. doi: 10.1186/s13023-024-03392-7. Orphanet J Rare Dis. 2024. PMID: 39478612 Free PMC article.
419 results