Function, structure and quality of striated muscles in the lower extremities in patients with late onset Pompe Disease—an MRI study

Autor: Henning Andersen, Steffen Ringgaard, John Vissing, Michael Vaeggemose, Rosa Andersen Mencagli, Julie Schjødtz Hansen, Bianca Dräger

Publikováno v: PeerJ, Vol 9, p e10928 (2021)
PeerJ
Vaeggemose, M, Mencagli, R A, Hansen, J S, Dräger, B, Ringgaard, S, Vissing, J & Andersen, H 2021, ' Function, structure and quality of striated muscles in the lower extremities in patients with late onset Pompe Disease : an MRI study ', PeerJ, vol. 9, e10928, pp. 1-19 . https://doi.org/10.7717/peerj.10928
Vaeggemose, M, Mencagli, R A, Hansen, J S, Dräger, B, Ringgaard, S, Vissing, J & Andersen, H 2021, ' Function, structure and quality of striated muscles in the lower extremities in patients with late onset Pompe Disease—an MRI study ', PeerJ, vol. 9, e10928 . https://doi.org/10.7717/peerj.10928

Background Pompe Disease (PD) is a rare inherited metabolic myopathy, caused by lysosomal-α-glucosidase (GAA) deficiency, which leads to glycogen accumulation within the lysosomes, resulting in cellular and tissue damage. Due to the emergence of a d

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