Pompe disease is less prevalent than expected in Spain, at around 3.1 cases per million inhabitants, according to a…
Articles by Andrea Lobo, PhD
Mitochondria dysfunction is linked to hypertrophic cardiomyopathy — when the heart becomes enlarged and cannot pump blood efficiently — in…
The use of a multidisciplinary treatment approach was described in a recent case report of a boy in the U.S.
Heart defects detected with cardiac MRI (CMR) may help diagnose classic infantile-onset Pompe disease in early childhood, a case…
Blood levels of neurofilament light chain (NfL) — a marker of nerve cell damage — are increased from infancy to…
Enzyme replacement therapy (ERT) for Pompe disease can be safely implemented at home, according to a study in the…