ListarArtículos en revistas indizadas por tema "Iduronate Sulfatase/genetics"

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Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients

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 ...

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