Now showing items 21-22 of 22

    • Tetrahydrobiopterin responsiveness of patients with phenylalanine hydroxylase deficiency 

      Giugliani, Luciana; Sitta, Angela; Vargas, Carmen Regla; Silva, Luiz Carlos Santana da; Nalin, Tatiéle; Pereira, Maria Luiza Saraiva; Giugliani, Roberto; Schwartz, Ida Vanessa Doederlein (2011) [Journal article]
      Objetivo: Identificar indivíduos responsivos à tetrahibrobiopterina (BH4) em uma amostra de pacientes brasileiros com hiperfenilalaninemia por deficiência de fenilalanina-hidroxilase (HPA-PAH). Métodos: Estudo intervencional, ...
    • Visual dysfunction of type I and VI mucopolysaccharidosis patients evaluated with visual evoked cortical potential 

      Gomes, Bruno Duarte; Souza, Givago; Viana, Gustavo Monteiro; Souza, Isabel Cristina Neves de; Feio, Patrícia do Socorro Queiroz; Schwartz, Ida Vanessa Doederlein; Marinho, Diane Ruschel; Silva Filho, Manoel da; Giugliani, Roberto; Silveira, Luiz Carlos de Lima; Silva, Luiz Carlos Santana da (2012) [Journal article]
      Purpose: To evaluate the visual system of patients suffering from type I or VI mucopolysaccharidosis (MPS) by recording the visual evoked cortical potential (VECP). Methods: Two patients with MPS VI and 2 patients with MPS ...