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). 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 ActivLim s... Mehr ...
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Dokumenttyp: | Artikel |
Erscheinungsdatum: | 2020 |
Verlag/Hrsg.: |
BioMed Central
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Schlagwörter: | Belgium / Delayed Diagnosis / Enzyme Replacement Therapy / Glycogen Storage Disease Type II / Humans / Middle Aged / Outcome Assessment / Health Care / alpha-Glucosidases / 6MWD / ActivLim / Belgian cohort / GSD2 / Glycogen storage disease type 2 / Respiratory |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-27305599 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | http://hdl.handle.net/2078.1/253644 |