Quantification of muscle glycogen distribution in Pompe disease using 7 Tesla <sup>13</sup>C NMR spectroscopy
The first muscles to degenerate in Pompe disease are hamstring and paraspinals. Our findings, therefore, suggest that high glycogen levels precede fatty degeneration of muscles, and that monitoring glycogen levels could be an important biomarker to assess treatment effect in Pompe disease.
Authors
- Lars C. Jacobsen
- Nadine A. M. E. van der Beek (ORCID: https://orcid.org/0000-0001-9161-3301)
- Vincent O. Boer (ORCID: https://orcid.org/0000-0001-6026-3134)
- Anouk Marsman
- M. Theunissen (ORCID: https://orcid.org/0000-0001-6434-3334)
- Henning Andersen
- Esben Thade Petersen (ORCID: https://orcid.org/0000-0001-7529-3432)
- G. Beha
- Mads Peter Godtfeldt Stemmerik (ORCID: https://orcid.org/0000-0002-4566-4156)
- John Vissing
- Ans T. van der Ploeg
Institutions
- University of Copenhagen (DK)
- Aarhus University (DK)
- Erasmus MC (NL)
- Aarhus University Hospital (DK)
- Copenhagen University Hospital (DK)
- Rigshospitalet (DK)
- Erasmus University Rotterdam (NL)
- Technical University of Denmark (DK)
Publication Details
- Journal
- Journal of Neurology Neurosurgery & Psychiatry
- Published
- 2025-10-15
- DOI
- https://doi.org/10.1136/jnnp-2025-336628
- Citations
- 2
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 2.33
Funders
- Sanofi
- Amicus Therapeutics