Add to ORKGAbstract Pompe disease, a rare autosomal recessive disorder caused by a deficiency of acid alpha-glucosidase, results in lysosomal accumulation of glycogen in multiple tissues, primarily affecting muscles. Infantile-onset Pompe disease is characterised by generalised muscle weakness, hypotonia and lethal cardiomyopathy, resulting in death within the first year of life. The advent of enzyme replacement therapy has changed the natural history of the disease. We report our experience of the use of recombinant human acid alpha-glucosidase in the treatment of two Chinese patients with infantile-onset Pompe disease in Hong Kong. Key words Chinese; Enzyme replacement; Pompe diseas
Pompe disease (PD) is an autosomal recessive lysosomal storage disorder caused by a deficiency of ac...
Background: Pompe disease is a progressive metabolic neuromuscular disorder resulting from deficienc...
Through enzyme-replacement therapy, infants with classic infantile Pompe disease grow older and achi...
Pompe disease is a rare autosomal recessive myopathy due to the deficiency of lysosomal acid alpha-g...
The glycogen storage disease type II (GSD-II), or Pompe disease, is due to the deficit of lysosomal ...
Juan Francisco Cabello,1 Deborah Marsden21Genetics and Metabolic Disease Laboratory, Nutrition and F...
Pompe disease (acid alpha-glucosidase deficiency, OMIM 232300) is a rare lysosomal storage disorder ...
Pompe disease is a metabolic myopathy. Since the first description of the disease in 1932 by J.C. P...
Pompe's disease is an autosomal recessive myopathy. The characteristic lysosomal storage of glycogen...
textabstractPompe’s disease is an inherited metabolic illness, caused by an inherited deficiency of...
Michael BeckChildren’s Hospital, University of Mainz, Mainz, GermanyAbstract: Pompe diseas...
Ilka Schneider, Stephan Zierz Department of Neurology, Martin Luther University Halle-Wittenberg, Ha...
Introduction: Glycogen Storage disease type 2 (GSD II), also known as Pompe disease is caused by a d...
Pompe disease is a rare metabolic myopathy caused by deficiency of lysosomal α-glucosidase. Reduced ...
Pompe's disease, glycogen-storage disease type II, and acid maltase deficiency are alternative names...
Pompe disease (PD) is an autosomal recessive lysosomal storage disorder caused by a deficiency of ac...
Background: Pompe disease is a progressive metabolic neuromuscular disorder resulting from deficienc...
Through enzyme-replacement therapy, infants with classic infantile Pompe disease grow older and achi...
Pompe disease is a rare autosomal recessive myopathy due to the deficiency of lysosomal acid alpha-g...
The glycogen storage disease type II (GSD-II), or Pompe disease, is due to the deficit of lysosomal ...
Juan Francisco Cabello,1 Deborah Marsden21Genetics and Metabolic Disease Laboratory, Nutrition and F...
Pompe disease (acid alpha-glucosidase deficiency, OMIM 232300) is a rare lysosomal storage disorder ...
Pompe disease is a metabolic myopathy. Since the first description of the disease in 1932 by J.C. P...
Pompe's disease is an autosomal recessive myopathy. The characteristic lysosomal storage of glycogen...
textabstractPompe’s disease is an inherited metabolic illness, caused by an inherited deficiency of...
Michael BeckChildren’s Hospital, University of Mainz, Mainz, GermanyAbstract: Pompe diseas...
Ilka Schneider, Stephan Zierz Department of Neurology, Martin Luther University Halle-Wittenberg, Ha...
Introduction: Glycogen Storage disease type 2 (GSD II), also known as Pompe disease is caused by a d...
Pompe disease is a rare metabolic myopathy caused by deficiency of lysosomal α-glucosidase. Reduced ...
Pompe's disease, glycogen-storage disease type II, and acid maltase deficiency are alternative names...
Pompe disease (PD) is an autosomal recessive lysosomal storage disorder caused by a deficiency of ac...
Background: Pompe disease is a progressive metabolic neuromuscular disorder resulting from deficienc...
Through enzyme-replacement therapy, infants with classic infantile Pompe disease grow older and achi...