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214 results

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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: schwartz ivd. 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.
Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network.
Dornelles AD, de Camargo Pinto LL, de Paula AC, Steiner CE, Lourenço CM, Kim CA, Horovitz DD, Ribeiro EM, Valadares ER, Goulart I, Neves de Souza IC, da Costa Neri JI, Santana-da-Silva LC, Silva LR, Ribeiro M, de Oliveira Sobrinho RP, Giugliani R, Schwartz IV. Dornelles AD, et al. Genet Mol Biol. 2014 Mar;37(1):23-9. doi: 10.1590/s1415-47572014000100006. Epub 2013 Feb 28. Genet Mol Biol. 2014. PMID: 24688287 Free PMC article.
Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.
Sperb-Ludwig F, Pinheiro FC, Bettio Soares M, Nalin T, Ribeiro EM, Steiner CE, Ribeiro Valadares E, Porta G, Fishinger Moura de Souza C, Schwartz IVD. Sperb-Ludwig F, et al. Among authors: schwartz ivd. Mol Genet Genomic Med. 2019 Nov;7(11):e877. doi: 10.1002/mgg3.877. Epub 2019 Sep 11. Mol Genet Genomic Med. 2019. PMID: 31508908 Free PMC article.
Clinical Characterization of Mucolipidoses II and III: A Multicenter Study.
Alegra T, Sperb-Ludwig F, Guarany NR, Ribeiro EM, Lourenço CM, Kim CA, Valadares ER, Galera MF, Acosta AX, Horovitz DDG, Schwartz IVD. Alegra T, et al. Among authors: schwartz ivd. J Pediatr Genet. 2019 Dec;8(4):198-204. doi: 10.1055/s-0039-1697605. Epub 2019 Sep 24. J Pediatr Genet. 2019. PMID: 31687257 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: schwartz ivd. 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.
Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up.
Starosta RT, Boyer S, Tahata S, Raymond K, Lee HE, Wolfe LA, Lam C, Edmondson AC, Schwartz IVD, Morava E. Starosta RT, et al. Among authors: schwartz ivd. Orphanet J Rare Dis. 2021 Jan 7;16(1):20. doi: 10.1186/s13023-020-01630-2. Orphanet J Rare Dis. 2021. PMID: 33413482 Free PMC article.
214 results