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 th...

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Bibliografiska uppgifter
I publikationen:PeerJ
Huvudupphovsmän: Vaeggemose, Michael, Mencagli, Rosa Andersen, Hansen, Julie Schjødtz, Dräger, Bianca, Ringgaard, Steffen, Vissing, John, Andersen, Henning
Materialtyp: Artigo
Språk:Inglês
Publicerad: PeerJ Inc. 2021
Ämnen:
Neurology
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC8106912/
https://ncbi.nlm.nih.gov/pubmed/33996274
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7717/peerj.10928
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