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

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

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

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Bibliographic Details
Main Authors: Nataliya Yuskiv, Katsumi Higaki, Sylvia Stockler-Ipsiroglu
Format: Article
Language:English
Published: MDPI AG 2020-11-01
Series:International Journal of Molecular Sciences
Subjects:
Mucopolysaccharidosis type 4
MPS4B
GM1 gangliosidosis
beta-galactosidase
<i>GLB1</i>
keratan sulfate
Online Access:https://www.mdpi.com/1422-0067/21/23/9121

Internet

https://www.mdpi.com/1422-0067/21/23/9121

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