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 therapy (ERT). Methods We studied the clinical, brain imaging, and genetic features of the Belgian cohort of late-onset Pompe disease patients ( N = 52), and explored the sensitivity of different outcome measures, during a longitudinal period of 7 years (2010–2017), including the activity limitations... Mehr ...
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Dokumenttyp: | Artikel |
Erscheinungsdatum: | 2020 |
Reihe/Periodikum: | Orphanet Journal of Rare Diseases ; volume 15, issue 1 ; ISSN 1750-1172 |
Verlag/Hrsg.: |
Springer Science and Business Media LLC
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Schlagwörter: | Pharmacology (medical) / Genetics (clinical) / General Medicine |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-26997750 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | http://dx.doi.org/10.1186/s13023-020-01353-4 |