Title: | Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures |
Journal : | Orphanet journal of rare diseases, 15, 1 |
Authors: | 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 CE ; Claeys KG |
Material Type: | Article |
Publication Date: | 04/2020 |
Size: | p 83 |
Languages: | English |
Keywords : | age of disease onset ; Belgium ; clinical presentation ; cohort studies ; epidemiology ; genetic diagnosis ; late-onset Pompe disease ; loongitudinal study ; medical monitoring ; prevalence ; retrospective studies |
Keywords: | 6MWD;ActivLim;Belgian cohort;GSD2;glycogen storage disease type 2;respiratory; |
Pubmed / DOI : | Pubmed : 32248831 / DOI : 10.1186/s13023-020-01353-4 |
N° Profil MNM : | 2020041 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/32248831 |