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Page 1
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: maia re. 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. Among authors: maia re. 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.
A brazilian nationwide multicenter study on deficiency of deaminase-2 (DADA2).
Melo A, de Carvalho LM, Ferriani VPL, Cavalcanti A, Appenzeller S, Oliveira VR, Neto HC, Rosário NA, de Oliveira Poswar F, Guimaraes MX, Kokron CM, Maia RE, Silva GD, Keller G, Ferreira MD, Vasconcelos DM, Toledo-Barros MAM, Barros SF, Neto NSR, Krieger MH, Kalil J, Mendonça LO. Melo A, et al. Among authors: maia re. Adv Rheumatol. 2023 May 22;63(1):23. doi: 10.1186/s42358-023-00303-5. Adv Rheumatol. 2023. PMID: 37217999
A novel GPIHBP1 mutation related to familial chylomicronemia syndrome: A series of cases.
Lima JG, Helena C Nobrega L, Moura Bandeira FT, Pires Sousa AG, Medeiros de Araujo Macedo TB, Cavalcante Nogueira AC, Fernandes de Oliveira Filho A, Alves RJ, Costa Gurgel Castelo MH, Silva Coelho FM, Maia RE, Lima DN, Timoteo ARS, de Melo Campos JTA. Lima JG, et al. Among authors: maia re. Atherosclerosis. 2021 Apr;322:31-38. doi: 10.1016/j.atherosclerosis.2021.02.020. Epub 2021 Feb 23. Atherosclerosis. 2021. PMID: 33706081
Further description of the phenotypic spectrum of neuronal ceroid lipofuscinosis type 11.
Nóbrega PR, Paiva ARB, Amorim Junior AD, Lima PLGSB, Cabral KSS, Barcelos IP, Pessoa ALS, Souza-Lima CFL, Castro MAA, Freua F, Santos ES, Rocha MMV, Maia RE, Araújo RS, Ramos JDG, Resende RG, Carvalho GDS, Valença LPA, Lima de Carvalho JR Jr, Melo ES, Pedroso JL, Barsottini OGP, Houlden H, Kok F, Lynch DS. Nóbrega PR, et al. Among authors: maia re. Genet Med. 2024 Oct 9;27(1):101291. doi: 10.1016/j.gim.2024.101291. Online ahead of print. Genet Med. 2024. PMID: 39394881 Free article.