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

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

Abstract 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 (pur...

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Bibliographic Details
Main Authors: Sylvia Stockler‐Ipsiroglu, Nahid Yazdanpanah, Mojgan Yazdanpanah, Marioara Moisa Popurs, Nataliya Yuskiv, Mara Lúcia Schmitz Ferreira Santos, Chong Ae Kim, Carolina Fischinger Moura de Souza, Charles Marques Lourenço, Carlos Eduardo Steiner, Andressa Federhen, Luciana Giugliani, Débora Maria Bastos Pereira, Luz Elena Durán‐Carabali, Roberto Giugliani
Format: Article
Language:English
Published: Wiley 2021-07-01
Series:JIMD Reports
Subjects:
dystonia
keratan sulfate
mucopolysaccharidosis type IVB
spondyloepiphyseal dysplasia
type 3 GM1 gangliosidosis
β‐galactosidase
Online Access:https://doi.org/10.1002/jmd2.12211

Internet

https://doi.org/10.1002/jmd2.12211

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