Brusius-Facchin, A. C.; Schwartz, I. V. D.; Zimmer, C.; Ribeiro, M. G.; Acosta, A. X.; Horovitz, D.; Monlleo, I. L.; Fontes, M. I. B.; Fett-Conte, A.; Sobrinho, R. P. Oliveira; Duarte, A. R.; Boy, R.; Mabe, P.; Ascurra, M.; de Michelena, M.; Tylee, K. L.; Besley, G. T. N.; Garreton, M. C. V.; Giugliani, R.; Leistner-Segal, S.
(Elsevier, 2014)
In this study, 103 unrelated South-American patients with mucopolysaccharidosis type II (MPS II) were investigated aiming at the identification of iduronate-2-sulfatase (IDS) disease causing mutations and the possibility ...
