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>...
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: | |
Online Access: | https://www.mdpi.com/1422-0067/21/23/9121 |
Similar Items
-
Morquio‐like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1‐related phenotype
by: Sylvia Stockler‐Ipsiroglu, et al.
Published: (2021-07-01) -
Population analysis of the GLB1 gene in South Brazil
by: Cléia Baiotto, et al.
Published: (2011-01-01) -
Synthesis of a New β-Galactosidase Inhibitor Displaying Pharmacological Chaperone Properties for GM1 Gangliosidosis
by: Francesca Clemente, et al.
Published: (2022-06-01) -
GM1 Gangliosidosis: Mechanisms and Management
by: Rha AK, et al.
Published: (2021-04-01) -
Chitotriosidase as a biomarker for gangliosidoses
by: Sarah Kim, et al.
Published: (2021-12-01)