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Page 1
Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI.
Horovitz DD, Magalhães TS, Acosta A, Ribeiro EM, Giuliani LR, Palhares DB, Kim CA, de Paula AC, Kerstenestzy M, Pianovski MA, Costa MI, Santos FC, Martins AM, Aranda CS, Correa Neto J, Holanda GB, Cardoso L Jr, da Silva CA, Bonatti RC, Ribeiro BF, Rodrigues Mdo C, Llerena JC Jr. Horovitz DD, et al. Among authors: ribeiro em, ribeiro bf. Mol Genet Metab. 2013 May;109(1):62-9. doi: 10.1016/j.ymgme.2013.02.014. Epub 2013 Mar 5. Mol Genet Metab. 2013. PMID: 23535281 Free article.
[Enzyme replacement therapy for mucopolysaccharidoses I, II and VI: recommendations from a group of Brazilian F experts].
Giugliani R, Federhen A, Muñoz Rojas MV, Vieira TA, Artigalás O, Pinto LL, Azevedo AC, Acosta AX, Bomfim C, Lourenço CM, Kim CA, Horovitz D, Souza DB, Norato D, Marinho D, Palhares D, Santos ES, Ribeiro E, Valadares ER, Guarany F, De Lucca GR, Pimentel H, Souza IN, Corrêa Neto J, Fraga JC, Góes JE, Cabral JM, Simeonato J, Llerena JC Jr, Jardim LB, Giuliani Lde R, Silva LC, Santos M, Moreira MA, Kerstenetzky M, Ribeiro M, Ruas N, Barrios P, Aranda P, Honjo R, Boy R, Costa R, Souza CF, Alcântara FF, Avilla SG, Fagondes S, Martins AM. Giugliani R, et al. Rev Assoc Med Bras (1992). 2010 May-Jun;56(3):271-7. doi: 10.1590/s0104-42302010000300009. Rev Assoc Med Bras (1992). 2010. PMID: 20676532 Free article. Portuguese.
Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment.
Giugliani R, Federhen A, Rojas MV, Vieira T, Artigalás O, Pinto LL, Azevedo AC, Acosta A, Bonfim C, Lourenço CM, Kim CA, Horovitz D, Bonfim D, Norato D, Marinho D, Palhares D, Santos ES, Ribeiro E, Valadares E, Guarany F, de Lucca GR, Pimentel H, de Souza IN, Correa J Sr, Fraga JC, Goes JE, Cabral JM, Simionato J, Llerena J Jr, Jardim L, Giuliani L, da Silva LC, Santos ML, Moreira MA, Kerstenetzky M, Ribeiro M, Ruas N, Barrios P, Aranda P, Honjo R, Boy R, Costa R, Souza C, Alcantara FF, Avilla SG, Fagondes S, Martins AM. Giugliani R, et al. Genet Mol Biol. 2010 Oct;33(4):589-604. doi: 10.1590/S1415-47572010005000093. Epub 2010 Dec 1. Genet Mol Biol. 2010. PMID: 21637564 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. Among authors: ribeiro m, ribeiro em. 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.
The phenotypic spectrum of congenital Zika syndrome.
Del Campo M, Feitosa IM, Ribeiro EM, Horovitz DD, Pessoa AL, França GV, García-Alix A, Doriqui MJ, Wanderley HY, Sanseverino MV, Neri JI, Pina-Neto JM, Santos ES, Verçosa I, Cernach MC, Medeiros PF, Kerbage SC, Silva AA, van der Linden V, Martelli CM, Cordeiro MT, Dhalia R, Vianna FS, Victora CG, Cavalcanti DP, Schuler-Faccini L; Zika Embryopathy Task Force-Brazilian Society of Medical Genetics ZETF-SBGM. Del Campo M, et al. Among authors: ribeiro em. Am J Med Genet A. 2017 Apr;173(4):841-857. doi: 10.1002/ajmg.a.38170. Am J Med Genet A. 2017. PMID: 28328129
GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms.
Ludwig NF, Velho RV, Sperb-Ludwig F, Acosta AX, Ribeiro EM, Kim CA, Gandelman Horovitz DD, Boy R, Rodovalho-Doriqui MJ, Lourenço CM, Santos ES, Braulke T, Pohl S, Schwartz IVD. Ludwig NF, et al. Among authors: ribeiro em. Int J Biochem Cell Biol. 2017 Nov;92:90-94. doi: 10.1016/j.biocel.2017.09.006. Epub 2017 Sep 14. Int J Biochem Cell Biol. 2017. PMID: 28918368
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: ribeiro em. 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.
179 results