Listar Ciencias de la Salud por tema "Dystonia"
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Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1-related phenotype
(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 ...