dried blood spots

Screening for LOPD may help ID undiagnosed patients

While it is not very common, adults with late-onset Pompe disease (LOPD) may go undiagnosed or misdiagnosed, even if they show symptoms or signs suggestive of the disease, a study from Spain has found. Dried blood spots — a form of sampling where a drop of blood is blotted…

Newborn Screening for Pompe Disease

Newborn screening for Pompe disease can help improve outcomes for babies and prevent a long diagnostic journey. Following is some information about newborn screening and how it can help the children and their parents. About Pompe disease Pompe disease is a rare genetic disease. It is characterized by…