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501 results

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Page 1
Enzyme replacement therapy interruption in patients with Mucopolysaccharidoses: Recommendations for distinct scenarios in Latin America.
Solano M, Fainboim A, Politei J, Porras-Hurtado GL, Martins AM, Souza CFM, Koch FM, Amartino H, Satizábal JM, Horovitz DDG, Medeiros PFV, Honjo RS, Lourenço CM. Solano M, et al. Among authors: martins am. Mol Genet Metab Rep. 2020 Feb 27;23:100572. doi: 10.1016/j.ymgmr.2020.100572. eCollection 2020 Jun. Mol Genet Metab Rep. 2020. PMID: 32140416 Free PMC article.
Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI.
Azevedo AC, Schwartz IV, Kalakun L, Brustolin S, Burin MG, Beheregaray AP, Leistner S, Giugliani C, Rosa M, Barrios P, Marinho D, Esteves P, Valadares E, Boy R, Horovitz D, Mabe P, da Silva LC, de Souza IC, Ribeiro M, Martins AM, Palhares D, Kim CA, Giugliani R. Azevedo AC, et al. Among authors: martins am. Clin Genet. 2004 Sep;66(3):208-13. doi: 10.1111/j.1399-0004.2004.00277.x. Clin Genet. 2004. PMID: 15324318
[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: martins am. 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. Among authors: martins am. 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.
New mutations in the GLA gene in Brazilian families with Fabry disease.
Turaça LT, Pessoa JG, Motta FL, Muñoz Rojas MV, Müller KB, Lourenço CM, Junior Marques W, D'Almeida V, Martins AM, Pesquero JB. Turaça LT, et al. Among authors: martins am. J Hum Genet. 2012 Jun;57(6):347-51. doi: 10.1038/jhg.2012.32. Epub 2012 May 3. J Hum Genet. 2012. PMID: 22551898
Utility of rare disease registries in latin america.
Martins AM, Kerstenezky M, Linares A, Politei J, Kohan R, Ospina S, Varas C, Villalobos J, Amartino H, Franco S, Valadez G, Giugliani R, Guerra P, Sanches L. Martins AM, et al. JIMD Rep. 2011;1:111-5. doi: 10.1007/8904_2011_25. Epub 2011 Jun 25. JIMD Rep. 2011. PMID: 23430837 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. Among authors: martins am. 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 in Mucopolysaccharidosis II Patients Under 1 Year of Age.
Lampe C, Atherton A, Burton BK, Descartes M, Giugliani R, Horovitz DD, Kyosen SO, Magalhães TS, Martins AM, Mendelsohn NJ, Muenzer J, Smith LD. Lampe C, et al. Among authors: martins am. JIMD Rep. 2014;14:99-113. doi: 10.1007/8904_2013_289. Epub 2014 Feb 11. JIMD Rep. 2014. PMID: 24515576 Free PMC article.
Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America.
Giugliani R, Villarreal ML, Valdez CA, Hawilou AM, Guelbert N, Garzón LN, Martins AM, Acosta A, Cabello JF, Lemes A, Santos ML, Amartino H. Giugliani R, et al. Among authors: martins am. Genet Mol Biol. 2014 Jun;37(2):315-29. doi: 10.1590/s1415-47572014000300003. Genet Mol Biol. 2014. PMID: 25071396 Free PMC article. Review.
Risk factors for severe clinical events in male and female patients with Fabry disease treated with agalsidase beta enzyme replacement therapy: Data from the Fabry Registry.
Hopkin RJ, Cabrera G, Charrow J, Lemay R, Martins AM, Mauer M, Ortiz A, Patel MR, Sims K, Waldek S, Warnock DG, Wilcox WR. Hopkin RJ, et al. Among authors: martins am. Mol Genet Metab. 2016 Sep;119(1-2):151-9. doi: 10.1016/j.ymgme.2016.06.007. Epub 2016 Jun 13. Mol Genet Metab. 2016. PMID: 27510433 Free article. Clinical Trial.
501 results