Navegação Ciências da Saúde por Assunto "Dystonia"

Resultados 1-1 de 1

    • Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1-related phenotype 

      Ipsiroglu, Sylvia Stockler; Yazdanpanah, Nahid; Yazdanpanah, Mojgan; Popurs, Marioara Moisa; Yuskiv, Nataliya; Santos, Mara Lúcia Schmitz Ferreira; Kim, Chong Ae; Souza, Carolina Fischinger Moura de; Lourenço, Charles Marques; Steiner, Carlos Eduardo; Federhen, Andressa; Giugliani, Luciana; Pereira, Débora Maria Bastos; Duran Carabali, Luz Elena; Giugliani, Roberto (2021) [Artigo de periódico]
      Background Morquio B disease (MBD) is a distinct GLB1-related dysostosis multiplex presenting a mild phenocopy of GALNS-related Morquio A disease. Previously reported cases from European countries carry the W273L variant ...