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Page 1
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: acosta ax. 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.
[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. Among authors: acosta ax. 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 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. 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.
Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene.
Cury GK, Matte U, Artigalás O, Alegra T, Velho RV, Sperb F, Burin MG, Ribeiro EM, Lourenço CM, Kim CA, Valadares ER, Galera MF, Acosta AX, Schwartz IV. Cury GK, et al. Among authors: acosta ax. Gene. 2013 Jul 15;524(1):59-64. doi: 10.1016/j.gene.2013.03.105. Epub 2013 Apr 6. Gene. 2013. PMID: 23566849 Free article.
Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients.
Brusius-Facchin AC, Schwartz IV, Zimmer C, Ribeiro MG, Acosta AX, Horovitz D, Monlleó IL, Fontes MI, Fett-Conte A, Sobrinho RP, Duarte AR, Boy R, Mabe P, Ascurra M, de Michelena M, Tylee KL, Besley GT, Garreton MC, Giugliani R, Leistner-Segal S. Brusius-Facchin AC, et al. Among authors: acosta ax. Mol Genet Metab. 2014 Feb;111(2):133-8. doi: 10.1016/j.ymgme.2013.08.011. Epub 2013 Sep 1. Mol Genet Metab. 2014. PMID: 24125893
Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series.
Horovitz DD, Acosta AX, Giugliani R, Hlavatá A, Hlavatá K, Tchan MC, Lopes Barth A, Cardoso L Jr, Embiruçu de Araújo Leão EK, Esposito AC, Kyosen SO, De Souza CF, Martins AM. Horovitz DD, et al. Among authors: acosta ax. Orphanet J Rare Dis. 2016 Apr 29;11(1):51. doi: 10.1186/s13023-016-0437-8. Orphanet J Rare Dis. 2016. PMID: 27129473 Free PMC article.
63 results