In the first study of its kind, U.S. researchers showed that focused ultrasound (FUS) could be used to allow approved…
Articles by Andrea Lobo, PhD
The activity levels of Myozyme (alglucosidase alfa) measured in blood and white blood cells may help indicate how well…
Pompe disease patients bear a substantial burden from coexisting conditions and the ongoing need for supportive care, despite treatment…
Wearable digital health technologies (DHTs) may help identify subtle walking and movement impairments in people with late-onset Pompe disease…
Reduced activity of the COL13A1 gene, which codes for a protein involved in the communication between nerves and muscles, may…
Gene and enzyme replacement therapies for Pompe disease improved breathing and limb strength in a mouse model of the…
A desensitization protocol allowed doctors to successfully treat an infant with classic infantile-onset Pompe disease (IOPD) who developed an…
A woman in Canada with atypical and slowly progressive onset of muscle weakness affecting her eyelids, face, and throat muscles…
Several cellular processes, particularly those related to lysosome function and autophagy, are altered in the muscles of people with…
Combining a symptom-based scoring tool with healthcare provider education may help identify patients who have an increased risk of having…