Pompe disease is an autosomal-recessive disorder ... by measuring invasive and noninvasive ventilator dependency, LVMI, shortening fraction (an alternative to the ejection fraction for describing ...

Pompe disease is characterized by a deficiency of acid α-glucosidase (GAA). The GAA enzyme degrades lysosomal glycogen, and insufficient GAA activity causes glycogen to accumulate in various tissues.

Pompe disease treatment market grows with advances in ERT and gene therapy, improving patient outcomes and access.