Journal of neurology, neurosurgery, and psychiatry
Quantification of muscle glycogen distribution in Pompe disease using 7 Tesla 13C NMR spectroscopy.
Gry H Beha, Mads Godtfeldt Stemmerik, Vincent O Boer, Ans T van der Ploeg, Nadine Ame van der Beek, Henning Andersen, Anouk Marsman, Laura N Jacobsen, Maudy T M Theunissen, Esben T Petersen, John Vissing
Published: 202510.1136/jnnp-2025-336628
Abstract
BACKGROUND: Late-onset Pompe disease has a characteristic pattern of fat replacement and wasting of especially axial and hamstring muscles. This characteristic pattern of muscle degeneration is still to be explained but could relate to differences in…
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