Listar por autor "Yuskiv, Nataliya"
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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) [Artículo 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 ...