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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.
X-LINKED ADRENOLEUKODYSTROPHY IN BRAZIL: A CASE SERIES.
Furlan FLS, Lemes MA, Suguimatsu LCF, Pires CTF, Santos MLSF. Furlan FLS, et al. Among authors: santos mlsf. Rev Paul Pediatr. 2019 Jun 19;37(4):465-471. doi: 10.1590/1984-0462/;2019;37;4;00015. eCollection 2019. Rev Paul Pediatr. 2019. PMID: 31241695 Free PMC article.
Clinical findings in Brazilian patients with adult GM1 gangliosidosis.
Giugliani L, Steiner CE, Kim CA, Lourenço CM, Santos MLSF, de Souza CFM, Brusius-Facchin AC, Baldo G, Riegel M, Giugliani R. Giugliani L, et al. Among authors: santos mlsf. JIMD Rep. 2019 Jul 17;49(1):96-106. doi: 10.1002/jmd2.12067. eCollection 2019 Sep. JIMD Rep. 2019. PMID: 31497487 Free PMC article.
Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity.
Margutti AVB, Silva WA Jr, Garcia DF, de Molfetta GA, Marques AA, Amorim T, Prazeres VMG, Boy da Silva RT, Miura IK, Seda Neto J, Santos ES, Santos MLSF, Lourenço CM, Tonon T, Sperb-Ludwig F, de Souza CFM, Schwartz IVD, Camelo JS Jr. Margutti AVB, et al. Among authors: santos es, santos mlsf. Orphanet J Rare Dis. 2020 Nov 1;15(1):309. doi: 10.1186/s13023-020-01590-7. Orphanet J Rare Dis. 2020. PMID: 33131499 Free PMC article.
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.
32 results