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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: fock r. 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.
Brazilian Position Statement for Familial Chylomicronemia Syndrome - 2023.
Izar MCO, Santos Filho RDD, Assad MHV, Chagas ACP, Toledo Júnior AO, Nogueira ACC, Souto ACCF, Lottenberg AMP, Chacra APM, Ferreira CEDS, Lourenço CM, Valerio CM, Cintra DE, Fonseca FAH, Campana GA, Bianco HT, Lima JG, Castelo MHCG, Scartezini M, Moretti MA, Barreto NSF, Maia RE, Montenegro Junior RM, Alves RJ, Figueiredo RMM, Fock RA, Martinez TLDR. Izar MCO, et al. Arq Bras Cardiol. 2023 Mar;120(4):e20230203. doi: 10.36660/abc.20230203. Arq Bras Cardiol. 2023. PMID: 37075362 Free PMC article. English, Portuguese. No abstract available.
Germline variant analysis from a cohort of patients with severe hypertriglyceridemia in Brazil.
Mendes C, Loureiro T, Villela D, Bittencourt MI, Sobreira J, Bermeo D, Gomes M, Alencar D, de Castro LSS, Fock RA, Tinoco ML, Galvão H, Scapulatempo-Neto C, Schiavetti K, Senerchia AA, Gurgel MHC. Mendes C, et al. Among authors: fock ra. Mol Genet Metab Rep. 2024 Jun 7;40:101100. doi: 10.1016/j.ymgmr.2024.101100. eCollection 2024 Sep. Mol Genet Metab Rep. 2024. PMID: 38933898 Free PMC article.
A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case.
Samogy-Costa CI, Varella-Branco E, Monfardini F, Ferraz H, Fock RA, Barbosa RHA, Pessoa ALS, Perez ABA, Lourenço N, Vibranovski M, Krepischi A, Rosenberg C, Passos-Bueno MR. Samogy-Costa CI, et al. J Neurodev Disord. 2019 Jul 18;11(1):13. doi: 10.1186/s11689-019-9273-1. J Neurodev Disord. 2019. PMID: 31319798 Free PMC article.
109 results