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

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

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 disease modifying treatment with recombinant GAA the...

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Bibliographic Details
Main Authors: Michael Vaeggemose, Rosa Andersen Mencagli, Julie Schjødtz Hansen, Bianca Dräger, Steffen Ringgaard, John Vissing, Henning Andersen
Format: Article
Language:English
Published: PeerJ Inc. 2021-05-01
Series:PeerJ
Subjects:
Late Onset Pompe Disease
Quantitative magnetic resonance imaging (mri)
Muscle quality
Enzyme replacement therapy
Clinical tests
Follow-up
Online Access:https://peerj.com/articles/10928.pdf

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https://peerj.com/articles/10928.pdf

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