Screening for late-onset Pompe disease in western Denmark

Autor: David Gaist, Ole Jakob Vilholm, L Weitemeyer, Henning Andersen, F E Schlesinger, B Sandal, Emil Greve Pedersen, Flemming W. Bach, Julie Schjødtz Hansen, John Vissing, Kim G. Nielsen, Nicolai Preisler

Publikováno v: Hansen, J S, Pedersen, E G, Gaist, D, Bach, F W, Vilholm, O J, Sandal, B, Weitemeyer, L, Nielsen, K, Schlesinger, F E, Preisler, N, Vissing, J & Andersen, H 2018, ' Screening for late-onset Pompe disease in western Denmark ', Acta Neurologica Scandinavica, vol. 137, no. 1, pp. 85-90 . https://doi.org/10.1111/ane.12811
Hansen, J S, Pedersen, E G, Gaist, D, Bach, F W, Vilholm, O J, Sandal, B, Weitemeyer, L, Nielsen, K, Schlesinger, F E, Preisler, N, Vissing, J & Andersen, H 2018, ' Screening for late-onset Pompe disease in western Denmark ', Acta Neurologica Scandinavica. Supplementum, vol. 137, no. 1, pp. 85-90 . https://doi.org/10.1111/ane.12811

OBJECTIVE: Late-onset Pompe disease (LOPD) is a rare autosomal recessively inherited metabolic myopathy caused by reduced activity of the lysosomal enzyme alpha-glucosidase. In a previous screening study at two large neuromuscular university clinics

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55ca77d334d74a9a8e9dc7573dbe9ab0
https://vbn.aau.dk/da/publications/5680875e-4ecf-4810-b1af-1e58c823cbb7