Mitochondria dysfunction is linked to hypertrophic cardiomyopathy — when the heart becomes enlarged and cannot pump blood efficiently — in…
Articles by Andrea Lobo, PhD
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…