Background: Late-onset glycogen storage disease type II is associated with variable muscle
phenotypes. Epidemiological data suggest that its prevalence is lower in Belgium than in …

Background Pompe disease is a rare autosomal recessive disorder caused by the
deficiency of a lysosomal enzyme, acid alpha-glucosidase (GAA). Early diagnosis and …

Pompe disease (PD) is an autosomal recessive genetic disorder caused by a deficiency of
the lysosomal enzyme acid α-glucosidase (GAA). It is easy to hastily diagnose as patients if …

Pompe disease is an inherited disorder caused by disease‐associated variants in the acid α‐
glucosidase gene (GAA). The Pompe disease GAA variant database (http://www …

R ecent biotechnological advance with production of human recombinant en-zyme was a
breakthrough which has allowed the introduction of enzymatic replacement therapy (ERT) …

BMJ Paediatrics Open is committed to open peer review. As part of this commitment we make
the peer review history of every artic Page 1 BMJ Paediatrics Open is committed to open peer …

Pompe disease is a metabolic myopathy which leads to severe and progressive weakness
due to glycogen storage in striated muscle and neurons. Generalized weakness leads to …

Not only as the degradation center of the cell, the lysosome has recently been demonstrated
to sense and respond to various cellular stresses. Failures of this lysosomal adaptation …

Inherited metabolic disorders can cause heart diseases, cardiomyopathy in particular, as
well as cardiac arrhythmias, valvular and coronary diseases. More than 40 different inherited …