Pompe disease (PD) is a rare autosomal recessive glycogen storage disorder that causes proximal muscle weakness and loss of respiratory function. While enzyme replacement therapy (ERT) is the only effective treatment, biomarkers for disease monitoring are scarce. Following ex vivo biomarker validation in phantom studies, we apply multispectral opto...

Non-invasive optoacoustic imaging of glycogen-storage and muscle degeneration in late-onset Pompe disease

10.1038/s41467-024-52143-6