Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures.
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). ; SCOPUS: ar.j ; info:eu-repo/semantics/published
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Dokumenttyp: | Artikel |
Erscheinungsdatum: | 2020 |
Schlagwörter: | Sciences bio-médicales et agricoles / 6MWD / ActivLim / Belgian cohort / GSD2 / Glycogen storage disease type 2 / Respiratory |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-28491365 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/308301 |