Patients with late-onset Pompe disease (LOPD) should be followed regularly and start on enzyme replacement therapy (ERT) if…
Articles by José Lopes, PhD
A database with mutations associated with Pompe disease has been extended and links different gene variants with their potential…
Muscle repair in Pompe disease is compromised by failed activation of muscle cells’ precursors called satellite cells (SCs), according…
Measuring the blood levels of the platelet-derived growth factor BB (PDGF-BB) allows researchers to differentiate between patients with adult-onset…
A woman with late-onset Pompe disease went through two successful pregnancies and births while continuing treatment with Lumizyme…
Audentes Therapeutics plans to submit an investigational new drug (IND) application for its Pompe disease gene therapy…
Early treatment with a four times higher dose of Myozyme (alglucosidase alpha) was safe and enabled normal motor development…
Researchers have proposed a cheap, simple, and more sensitive screening test to identify Pompe disease and differentiate it from other neuromuscular…