Pompe disease, also known as glycogen storage disease type II, is an autosomal recessive disorder caused by deficiency of the lysosomal enzyme acid-α-glucosidase. It is a chronic and progressive disease characterized by storage of glycogen mostly in muscles. Late onset cases typically present with proximal muscle weakness and respiratory insufficiency or exertional dyspnea. Treatment is now available with intravenous infusion of recombinant acid α-glucosidase
Pompe disease (glycogen storage disease type II or acid maltase deficiency) is a lysosomal disorder ...
Pompe disease is estimated to happen in 1 out of 40 000 borns. It is rare metabolic disease connecte...
Abstract Background Acute respiratory failure can be triggered by several causes, either of pulmonar...
Genome analysis like „Next-generation sequencing“ (NGS) has impacted research of complex diseases in...
Pompe disease (glycogen-storage disease type II) is an autosomal recessive disorder caused by a defi...
Pompe disease (acid alpha-glucosidase deficiency, OMIM 232300) is a rare lysosomal storage disorder ...
Pompe disease (PD) is an autosomal recessive disease caused by partial or complete deficiency of the...
Pompe disease or glycogen storage disease type II is the accumulation of glycogen in muscle tissue d...
Pompe disease also known as glycogen storage disease type II, is a rare and progressive lysosomal st...
Juan Francisco Cabello,1 Deborah Marsden21Genetics and Metabolic Disease Laboratory, Nutrition and F...
muscle disease with new therapeutic perspectives A.T. van der Ploeg M onitoring of pulmonary functio...
SummaryPompe disease is a single disease continuum that includes variable neuromuscular symptoms and...
Pompe's disease is an autosomal recessive myopathy. The characteristic lysosomal storage of glycogen...
We report 4 cases of late onset glycogen storage disease type II (GSD II) or Pompe disease (OMIM #23...
Pompe’s disease (acidmaltase deficiency, glycogen storage disease type II) is an autosomal recessive...
Pompe disease (glycogen storage disease type II or acid maltase deficiency) is a lysosomal disorder ...
Pompe disease is estimated to happen in 1 out of 40 000 borns. It is rare metabolic disease connecte...
Abstract Background Acute respiratory failure can be triggered by several causes, either of pulmonar...
Genome analysis like „Next-generation sequencing“ (NGS) has impacted research of complex diseases in...
Pompe disease (glycogen-storage disease type II) is an autosomal recessive disorder caused by a defi...
Pompe disease (acid alpha-glucosidase deficiency, OMIM 232300) is a rare lysosomal storage disorder ...
Pompe disease (PD) is an autosomal recessive disease caused by partial or complete deficiency of the...
Pompe disease or glycogen storage disease type II is the accumulation of glycogen in muscle tissue d...
Pompe disease also known as glycogen storage disease type II, is a rare and progressive lysosomal st...
Juan Francisco Cabello,1 Deborah Marsden21Genetics and Metabolic Disease Laboratory, Nutrition and F...
muscle disease with new therapeutic perspectives A.T. van der Ploeg M onitoring of pulmonary functio...
SummaryPompe disease is a single disease continuum that includes variable neuromuscular symptoms and...
Pompe's disease is an autosomal recessive myopathy. The characteristic lysosomal storage of glycogen...
We report 4 cases of late onset glycogen storage disease type II (GSD II) or Pompe disease (OMIM #23...
Pompe’s disease (acidmaltase deficiency, glycogen storage disease type II) is an autosomal recessive...
Pompe disease (glycogen storage disease type II or acid maltase deficiency) is a lysosomal disorder ...
Pompe disease is estimated to happen in 1 out of 40 000 borns. It is rare metabolic disease connecte...
Abstract Background Acute respiratory failure can be triggered by several causes, either of pulmonar...