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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: grumach as. 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.
Hereditary angioedema: first report of the Brazilian registry and challenges.
Grumach AS, Valle SO, Toledo E, de Moraes Vasconcelos D, Villela MM, Mansour E, Pinto JA, Campos RA, França AT; group interested on HAE (GINHA). Grumach AS, et al. J Eur Acad Dermatol Venereol. 2013 Mar;27(3):e338-44. doi: 10.1111/j.1468-3083.2012.04670.x. Epub 2012 Aug 7. J Eur Acad Dermatol Venereol. 2013. PMID: 22882421
Ataxia-telangiectasia in Latin America: clinical features, immunodeficiency, and mortality in a multicenter study.
Pereira RA, Dantas EO, Loekmanwidjaja J, Mazzucchelli JTL, Aranda CS, Serrano MEG, De La Cruz Córdoba EA, Bezrodnik L, Moreira I, Ferreira JFS, Dantas VM, Sales VSF, Fernandez CC, Vilela MMS, Motta IP, Franco JL, Arango JCO, Álvarez-Álvarez JA, Cardozo LRR, Orellana JC, Condino-Neto A, Kokron CM, Barros MT, Regairaz L, Cabanillas D, Suarez CLN, Rosario NA, Chong-Neto HJ, Takano OA, Nadaf MISV, Moraes LSL, Tavares FS, Rabelo F, Pino J, Calderon WC, Mendoza-Quispe D, Goudouris ES, Patiño V, Montenegro C, Souza MS, Branco AB, Forte WCN, Carvalho FAA, Segundo G, Cheik MFA, Roxo-Junior P, Peres M, Oliveira AM, Neto ACP, Ortega-López MC, Lozano A, Lozano NA, Nieto LH, Grumach AS, Costa DC, Antunes NMN, Nudelman V, Pereira CTM, Martinez MDM, Quiroz FJR, Cardona AA, Nuñez-Nuñez ME, Rodriguez JA, Cuellar CM, Vijoditz G, Bichuetti-Silva DC, Prando CCM, Amantéa SL, Costa-Carvalho BT. Pereira RA, et al. Among authors: grumach as. Immunol Res. 2024 Aug;72(4):864-873. doi: 10.1007/s12026-024-09494-5. Epub 2024 Jun 4. Immunol Res. 2024. PMID: 38834764
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