Add to ORKGGlycogen storage disease type II (Pompe disease; MIM 232300) stems from the deficiency of acid α-glucosidase (GAA; acid maltase; EC 3.2.1.20), which primarily involves cardiac and skeletal muscles. An adeno-associated virus 2/8 (AAV2/8) vector containing the muscle cre-atine kinase (MCK) (CK1) reduced glycogen content by ~50 % in the heart and quadriceps in GAA-knockout (GAA-KO) mice; furthermore, an AAV2/8 vector contain-ing the hybrid α-myosin heavy chain enhancer-/MCK enhancer-promoter (MHCK7) cassette reduced glyco-gen content by>95 % in heart and>75 % in the dia-phragm and quadriceps. Transduction with an AAV2/8 vector was higher in the quadriceps than in the gastroc-nemius. An AAV2/9 vector containing the MHCK7 cas-sette correct...
Pompe disease is caused by deficiency of acid α-glucosidase (GAA), resulting in glycogen accumulatio...
Pompe disease, which results from mutations in the gene encoding the glycogen-degrading lysosomal en...
International audienceBackground: Pompe disease (PD) is a neuromuscular disorder caused by deficienc...
Glycogen storage disease type II (GSD-II; Pompe disease; MIM 232300) stems from the inherited defici...
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...
Glycogen storage disease type II (Pompe disease; MIM 232300) stems from the inherited deficiency of ...
Pompe disease is an autosomal recessive glycogen storage disorder caused by deficiency of the lysoso...
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 (PD) is a fatal metabolic disorder caused by mutations in the GAA gene leading to a de...
Pompe disease is an inherited neuromuscular disorder caused by deficiency of the lysosomal enzyme ac...
Glycogen storage disease type II (GSDII) or Pompe disease is an autosomal recessive disorder caused ...
Pompe disease is a neuromuscular disorder caused by disease-associated variants in the gene encoding...
Pompe disease (type II glycogen storage disease) is an autosomal recessive disorder caused by a defi...
Pompe disease is caused by deficiency of acid α-glucosidase (GAA), resulting in glycogen accumulatio...
Pompe disease, which results from mutations in the gene encoding the glycogen-degrading lysosomal en...
International audienceBackground: Pompe disease (PD) is a neuromuscular disorder caused by deficienc...
Glycogen storage disease type II (GSD-II; Pompe disease; MIM 232300) stems from the inherited defici...
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...
Glycogen storage disease type II (Pompe disease; MIM 232300) stems from the inherited deficiency of ...
Pompe disease is an autosomal recessive glycogen storage disorder caused by deficiency of the lysoso...
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 (PD) is a fatal metabolic disorder caused by mutations in the GAA gene leading to a de...
Pompe disease is an inherited neuromuscular disorder caused by deficiency of the lysosomal enzyme ac...
Glycogen storage disease type II (GSDII) or Pompe disease is an autosomal recessive disorder caused ...
Pompe disease is a neuromuscular disorder caused by disease-associated variants in the gene encoding...
Pompe disease (type II glycogen storage disease) is an autosomal recessive disorder caused by a defi...
Pompe disease is caused by deficiency of acid α-glucosidase (GAA), resulting in glycogen accumulatio...
Pompe disease, which results from mutations in the gene encoding the glycogen-degrading lysosomal en...
International audienceBackground: Pompe disease (PD) is a neuromuscular disorder caused by deficienc...