Navegação por Autor "Politei, Juan Manuel"

Resultados 1-2 de 2

    • Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat : a modified Delphi study 

      Bichet, Daniel G.; Hopkin, Robert J.; Aguiar, Patrício; Allam , Sridhar R.; Chien, Yin-Hsiu; Giugliani, Roberto; Kallish, Staci; Kineen, Sabina; Lidove, Olivier; Niu, Dauming; Olivotto, Iacopo; Politei, Juan Manuel; Rakoski, Paul; Torra, Roser; Tondel, Camilla; Hughes, Derralynn A. (2023) [Artigo de periódico]
      Objective: Fabry disease is a progressive disorder caused by deficiency of the α-galactosidase A enzyme (α-Gal A), leading to multisystemic organ damage with heterogenous clinical presentation. The addition of the oral ...

    • Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophy 

      Pereira, Fernanda dos Santos; Matte, Ursula da Silveira; Habekost, Clarissa Troller; Castilhos, Raphael Machado de; El-Husny, Antonette Souto; Lourenço, Charles Marques; Vianna-Morgante, Angela M.; Giuliani, Liane de Rosso; Galera, Marcial Francis; Honjo, Raquel S.; Kim, Chong Ae; Politei, Juan Manuel; Vargas, Carmen Regla; Jardim, Laura Bannach (2012) [Artigo de periódico]
      In this study, we analyzed the ABCD1 gene in X-linked adrenoleukodystrophy (X-ALD) patients and relatives from 38 unrelated families from South America, as well as phenotypic proportions, survival estimates, and the potential ...