Morquio B Disease. Disease Characteristics and Treatment Options of a Distinct GLB1-Related Dysostosis Multiplex

Morquio B disease (MBD) is an autosomal recessive GLB1-gene-related lysosomal storage disease, presenting with a peculiar type of dysostosis multiplex which is also observed in GALNS-related Morquio A disease. MBD may present as pure skeletal phenotype (pure MBD) or in combination with the neuronopa...

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Detalles Bibliográficos
Autores principales: Yuskiv, Nataliya, Higaki, Katsumi, Stockler-Ipsiroglu, Sylvia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7729736/
https://www.ncbi.nlm.nih.gov/pubmed/33266180
http://dx.doi.org/10.3390/ijms21239121

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7729736/
https://www.ncbi.nlm.nih.gov/pubmed/33266180
http://dx.doi.org/10.3390/ijms21239121

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