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Page 1
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.
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.
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.
Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry.
Wilcox WR, Feldt-Rasmussen U, Martins AM, Ortiz A, Lemay RM, Jovanovic A, Germain DP, Varas C, Nicholls K, Weidemann F, Hopkin RJ. Wilcox WR, et al. Among authors: martins am. JIMD Rep. 2018;38:45-51. doi: 10.1007/8904_2017_28. Epub 2017 May 17. JIMD Rep. 2018. PMID: 28510034 Free PMC article.
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.
521 results