Add to ORKGGlycogen storage disease type II (GSD-II; Pompe disease; MIM 232300) stems from the inherited deficiency of acid-α-glucosidase (GAA; acid maltase; EC 3.2.1.20), which primarily involves cardiac and skeletal muscles. We hypothesized that hydrostatic isolated limb perfusion (ILP) administration of an adeno-associated virus (AAV) vector containing a muscle specific promoter could achieve relatively higher transgene expression in the hindlimb muscles of GAA-knockout (GAA-KO) mice, in comparison with intravenous (IV) administration. ILP adminstration of AAV2/8 vectors encoding alkaline phosphatase or human GAA transduced skeletal muscles of the hindlimb widely, despite the relatively low number of vector particles administered (1×1011), and IV a...
International audienceEnzyme replacement therapy (ERT) is the standard-of-care treatment of Pompe di...
Pompe disease, which results from mutations in the gene encoding the glycogen-degrading lysosomal en...
Glycogen storage disease type II (GSDII) or Pompe disease is an autosomal recessive disorder caused ...
Glycogen storage disease type II (Pompe disease; MIM 232300) stems from the inherited deficiency of ...
Glycogen storage disease type II (Pompe disease; MIM 232300) stems from the deficiency of acid α-glu...
International audienceGlycogen storage disease type II or Pompe disease is a severe neuromuscular di...
Pompe disease is a severe disorder caused by loss of acid α-glucosidase (GAA), leading to glycogen a...
Pompe Disease (PD) is a fatal metabolic disorder caused by mutations in the GAA gene leading to a de...
Pompe disease is an autosomal recessive glycogen storage disorder caused by deficiency of the lysoso...
Pompe disease is an inherited neuromuscular disorder caused by deficiency of the lysosomal enzyme ac...
International audiencePompe disease is a neuromuscular disorder caused by disease-associated variant...
Pompe disease (PD) is a neuromuscular disorder caused by deficiency of acidalpha-glucosidase (GAA), ...
Pompe disease (type II glycogen storage disease) is an autosomal recessive disorder caused by a defi...
International audiencePompe disease (PD) is caused by the deficiency of the lysosomal enzyme acid al...
Recombinant adeno-associated virus (rAAV)rh74.MCK.GALGT2 is a muscle-specific gene therapy that is b...
International audienceEnzyme replacement therapy (ERT) is the standard-of-care treatment of Pompe di...
Pompe disease, which results from mutations in the gene encoding the glycogen-degrading lysosomal en...
Glycogen storage disease type II (GSDII) or Pompe disease is an autosomal recessive disorder caused ...
Glycogen storage disease type II (Pompe disease; MIM 232300) stems from the inherited deficiency of ...
Glycogen storage disease type II (Pompe disease; MIM 232300) stems from the deficiency of acid α-glu...
International audienceGlycogen storage disease type II or Pompe disease is a severe neuromuscular di...
Pompe disease is a severe disorder caused by loss of acid α-glucosidase (GAA), leading to glycogen a...
Pompe Disease (PD) is a fatal metabolic disorder caused by mutations in the GAA gene leading to a de...
Pompe disease is an autosomal recessive glycogen storage disorder caused by deficiency of the lysoso...
Pompe disease is an inherited neuromuscular disorder caused by deficiency of the lysosomal enzyme ac...
International audiencePompe disease is a neuromuscular disorder caused by disease-associated variant...
Pompe disease (PD) is a neuromuscular disorder caused by deficiency of acidalpha-glucosidase (GAA), ...
Pompe disease (type II glycogen storage disease) is an autosomal recessive disorder caused by a defi...
International audiencePompe disease (PD) is caused by the deficiency of the lysosomal enzyme acid al...
Recombinant adeno-associated virus (rAAV)rh74.MCK.GALGT2 is a muscle-specific gene therapy that is b...
International audienceEnzyme replacement therapy (ERT) is the standard-of-care treatment of Pompe di...
Pompe disease, which results from mutations in the gene encoding the glycogen-degrading lysosomal en...
Glycogen storage disease type II (GSDII) or Pompe disease is an autosomal recessive disorder caused ...