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

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 on at least one GLB1 allele and exhibit a pure skeletal phenotype (pure MBD)....

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Detalles Bibliográficos
Autores principales: Stockler‐Ipsiroglu, Sylvia, Yazdanpanah, Nahid, Yazdanpanah, Mojgan, Moisa Popurs, Marioara, Yuskiv, Nataliya, Schmitz Ferreira Santos, Mara Lúcia, Ae Kim, Chong, Fischinger Moura de Souza, Carolina, Marques Lourenço, Charles, Steiner, Carlos Eduardo, Federhen, Andressa, Giugliani, Luciana, Bastos Pereira, Débora Maria, Durán‐Carabali, Luz Elena, Giugliani, Roberto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8260481/
https://www.ncbi.nlm.nih.gov/pubmed/34258138
http://dx.doi.org/10.1002/jmd2.12211

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