Add to ORKGGlycogen storage disease type 2, Pompe disease, is a progressive muscle disorder with a wide range of pheno-typic presentations, caused by an inherited deficiency of the enzyme acid alpha-glucosidase. Although only a few patients have been treated with recombinant human alpha-glucosidase from rabbit milk since 2004, enzyme replacement therapy (ERT) with alglucosidase alfa has been licensed for the treatment of Pompe disease since 2006. Here, a systematic review [1] evaluates the clinical efficacy and safety of alglucosidase alfa treatment in juve-nile and adult patients with late-onset Pompe disease (LOPD). Studies of alglucosidase alfa treatment in patients with LOPD, published up to October 2012, were identified using an electronic search...
Pompe disease (PD) is an autosomal recessive disease caused by partial or complete deficiency of the...
International audienceBackground and ObjectivesPompe disease is a rare, progressive neuromuscular di...
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...
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 ...
Background: Pompe disease is caused by a deficiency of acid alpha- glucosidase (GAA). Severe GAA def...
Pompe disease (PD) is a glycogen storage disorder caused by deficient activity of acid alpha-glucosi...
Pompe's disease is an autosomal recessive myopathy. The characteristic lysosomal storage of glycogen...
AbstractEmerging phenotypes in long-term survivors with Pompe disease on standard enzyme replacement...
Background: Pompe disease is a rare, progressive neuromuscular disorder caused by deficiency of acid...
Contains fulltext : 57497.pdf (publisher's version ) (Open Access)OBJECTIVE: Recen...
Pompe disease is a rare autosomal recessive myopathy due to the deficiency of lysosomal acid alpha-g...
textabstractBackground Late-onset Pompe disease is characterized by progressive skeletal myopathy fo...
Pompe disease (PD) is an autosomal recessive disease caused by partial or complete deficiency of the...
International audienceBackground and ObjectivesPompe disease is a rare, progressive neuromuscular di...
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...
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 ...
Background: Pompe disease is caused by a deficiency of acid alpha- glucosidase (GAA). Severe GAA def...
Pompe disease (PD) is a glycogen storage disorder caused by deficient activity of acid alpha-glucosi...
Pompe's disease is an autosomal recessive myopathy. The characteristic lysosomal storage of glycogen...
AbstractEmerging phenotypes in long-term survivors with Pompe disease on standard enzyme replacement...
Background: Pompe disease is a rare, progressive neuromuscular disorder caused by deficiency of acid...
Contains fulltext : 57497.pdf (publisher's version ) (Open Access)OBJECTIVE: Recen...
Pompe disease is a rare autosomal recessive myopathy due to the deficiency of lysosomal acid alpha-g...
textabstractBackground Late-onset Pompe disease is characterized by progressive skeletal myopathy fo...
Pompe disease (PD) is an autosomal recessive disease caused by partial or complete deficiency of the...
International audienceBackground and ObjectivesPompe disease is a rare, progressive neuromuscular di...
textabstractPompe’s disease is an inherited metabolic illness, caused by an inherited deficiency of...