Characterization of pre- and post-treatment pathology after enzyme replacement therapy for pompe disease

Partial phenotypic correction and immune

Partial phenotypic correction and immune tolerance induction to enzyme replacement therapy after hematopoietic stem cell gene transfer of α-glucosidase in Pompe disease

✍ Gaëlle Douillard-Guilloux; Emmanuel Richard; Lionel Batista; Catherine Caillaud 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 472 KB 👁 1 views

## Abstract ## Background Glycogen storage disease type II (GSDII) or Pompe disease is an inherited disease of glycogen metabolism caused by a lack of functional lysosomal acid α‐glucosidase (GAA). Affected individuals store glycogen in lysosomes resulting in fatal hypertrophic cardiomyopathy and