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Page 1
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: ascurra m. 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
The Latin American network for congenital malformation surveillance: ReLAMC.
Orioli IM, Dolk H, Lopez-Camelo J, Groisman B, Benavides-Lara A, Gimenez LG, Correa DM, Ascurra M, de Aquino Bonilha E, Canessa-Tapia MA, de França GVA, Hurtado-Villa P, Ibarra-Ramírez M, Pardo R, Pastora DM, Zarante I, Soares FS, de Carvalho FM, Piola M; ReLAMC Group. Orioli IM, et al. Among authors: ascurra m. Am J Med Genet C Semin Med Genet. 2020 Dec;184(4):1078-1091. doi: 10.1002/ajmg.c.31872. Epub 2020 Dec 14. Am J Med Genet C Semin Med Genet. 2020. PMID: 33319501