Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures

Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures

Abstract Background Late-onset Pompe disease (LOPD) is a rare, hereditary, progressive disorder that is usually characterized by limb-girdle muscle weakness and/or respiratory insufficiency. LOPD is caused by mutations in the acid alpha-glucosidase (GAA) gene and treated with enzyme replacement ther...

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Bibliographic Details
Main Authors: P. Vanherpe, S. Fieuws, A. D’Hondt, C. Bleyenheuft, P. Demaerel, J. De Bleecker, P. Van den Bergh, J. Baets, G. Remiche, K. Verhoeven, S. Delstanche, M. Toussaint, B. Buyse, P. Van Damme, C. E. Depuydt, K. G. Claeys
Format: Article
Language:English
Published: BMC 2020-04-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Glycogen storage disease type 2
GSD2
Belgian cohort
ActivLim
6MWD
Respiratory
Online Access:http://link.springer.com/article/10.1186/s13023-020-01353-4

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http://link.springer.com/article/10.1186/s13023-020-01353-4

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