Background: Pompe disease is caused by a deficiency of acid alpha- glucosidase (GAA). Severe GAA deficiency manifests during infancy with rapidly progressing muscle weakness, and cardiomyopathy that typically results in death by 1 year. Aim/methods: Two open-label studies were conducted in patients less-than-or-equals, slant6 months (S1, n = 18) or > 6–36 months (S2, n = 21) of age with rapidly progressing disease. S1 patients received alglucosidase alfa at 20 or 40 mg/kg qow; S2 patients started at 20 mg/kg qow. Results: Mean age at treatment and median duration of treatment were 5.1 months and 121 weeks (S1), 15.7 months and 120 weeks (S2 ), respectively. Cox regression analyses comparing study patients to historical controls; (S1 n = 61;...
Background: Pompe disease is a rare, progressive neuromuscular disorder caused by deficiency of acid...
AbstractEmerging phenotypes in long-term survivors with Pompe disease on standard enzyme replacement...
Background: Classic infantile onset of Pompe disease (c-IOPD) leads to hypotonia and hypertrophic ca...
Background: Pompe’s disease is caused by a deficiency of acid alpha-glucosidase (GAA). Severe GAA de...
The glycogen storage disease type II (GSD-II), or Pompe disease, is due to the deficit of lysosomal ...
ABSTRACT: In a previous 52-wk trial, treatment with alglucosidase alfa markedly improved cardiomyopa...
Background: Pompe disease is a progressive metabolic neuromuscular disorder resulting from deficienc...
Ilka Schneider, Stephan Zierz Department of Neurology, Martin Luther University Halle-Wittenberg, Ha...
There is limited information regarding ideal dosage of alglucoside alfa in patients with Infantile O...
Introduction: Glycogen Storage disease type 2 (GSD II), also known as Pompe disease is caused by a d...
textabstractBackground: Though enzyme-replacement therapy (ERT) with alglucosidase alfa has signific...
Pompe disease (acid alpha-glucosidase deficiency, OMIM 232300) is a rare lysosomal storage disorder ...
Purpose: Pompe disease results from lysosomal acid alpha-glucosidase (GAA) deficiency and its associ...
International audienceBackground Enzyme replacement therapy (ERT) with alglucosidase alfa has been f...
Pompe disease (glycogen storage disease type II or acid maltase deficiency) is a lysosomal disorder ...
Background: Pompe disease is a rare, progressive neuromuscular disorder caused by deficiency of acid...
AbstractEmerging phenotypes in long-term survivors with Pompe disease on standard enzyme replacement...
Background: Classic infantile onset of Pompe disease (c-IOPD) leads to hypotonia and hypertrophic ca...
Background: Pompe’s disease is caused by a deficiency of acid alpha-glucosidase (GAA). Severe GAA de...
The glycogen storage disease type II (GSD-II), or Pompe disease, is due to the deficit of lysosomal ...
ABSTRACT: In a previous 52-wk trial, treatment with alglucosidase alfa markedly improved cardiomyopa...
Background: Pompe disease is a progressive metabolic neuromuscular disorder resulting from deficienc...
Ilka Schneider, Stephan Zierz Department of Neurology, Martin Luther University Halle-Wittenberg, Ha...
There is limited information regarding ideal dosage of alglucoside alfa in patients with Infantile O...
Introduction: Glycogen Storage disease type 2 (GSD II), also known as Pompe disease is caused by a d...
textabstractBackground: Though enzyme-replacement therapy (ERT) with alglucosidase alfa has signific...
Pompe disease (acid alpha-glucosidase deficiency, OMIM 232300) is a rare lysosomal storage disorder ...
Purpose: Pompe disease results from lysosomal acid alpha-glucosidase (GAA) deficiency and its associ...
International audienceBackground Enzyme replacement therapy (ERT) with alglucosidase alfa has been f...
Pompe disease (glycogen storage disease type II or acid maltase deficiency) is a lysosomal disorder ...
Background: Pompe disease is a rare, progressive neuromuscular disorder caused by deficiency of acid...
AbstractEmerging phenotypes in long-term survivors with Pompe disease on standard enzyme replacement...
Background: Classic infantile onset of Pompe disease (c-IOPD) leads to hypotonia and hypertrophic ca...