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Cornejo-Olivas, M. ; Inca-Martinez, M. ; Castilhos, R.M. ; Furtado, G.V. ; Mattos, E.P. ; Bampi, G.B. ; Leistner-Segal, S. ; Marca, V. ; Mazzetti, P. ; Saraiva-Pereira, M.L. ; Jardim, L.B. ; Rede Neurogenetica | Springer Verlag | 2020-07-14T00:01:05ZRelative frequency of hereditary ataxias remains unknown in many regions of Latin America. We described the relative frequency in spinocerebellar ataxias (SCA) due to (CAG)n and to (ATTCT)n expansions, as well as Friedreich ataxia (FRDA), among [...]texto impreso
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 | 2020-06-10T18:12:14ZIn 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 of some insights on the [...]
