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

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 therapy (ERT...

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Dades bibliogràfiques
Publicat a:Orphanet J Rare Dis
Autors principals: Vanherpe, P., Fieuws, S., D’Hondt, A., Bleyenheuft, C., Demaerel, P., De Bleecker, J., Van den Bergh, P., Baets, J., Remiche, G., Verhoeven, K., Delstanche, S., Toussaint, M., Buyse, B., Van Damme, P., Depuydt, C. E., Claeys, K. G.
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2020
Matèries:
Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7133011/
https://ncbi.nlm.nih.gov/pubmed/32248831
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01353-4
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