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 sco... Mehr ...
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Dokumenttyp: | journalarticle |
Erscheinungsdatum: | 2020 |
Schlagwörter: | Medicine and Health Sciences / Glycogen storage disease type 2 / GSD2 / Belgian cohort / ActivLim / 6MWD / Respiratory / ENZYME REPLACEMENT THERAPY / ACTIVITY LIMITATIONS / GUIDELINES |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-26529155 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | https://biblio.ugent.be/publication/8701634 |