Objective To determine the benefit of newborn screening for the long-term prognosis of
patients with classic infantile-onset Pompe disease (IOPD). Study design A cohort of patients …

Pompe disease is an autosomal recessive, progressive, debilitating, and often fatal
neuromuscular disorder caused by deficiency of lysosomal acid α-glucosidase (GAA). It is …

Pompe disease is an autosomal recessive lysosomal glycogen storage disorder that is
caused by acid α‐glucosidase (GAA) deficiency and is due to pathogenic sequence …

Pompe disease (PD) is an autosomal recessive lysosomal disorder caused by the deficient
activity of acid alpha-glucosidase (GAA) enzyme due to mutations in the GAA gene. The …

Pompe disease is caused by autosomal recessive mutations in the acid alpha-glucosidase
(GAA) gene, which encodes GAA. Although enzyme replacement therapy has recently …

Objective To evaluate whether very early treatment in our patients would result in better
clinical outcomes and to compare these data with other infantile-onset Pompe disease …

Glycogen storage disorders (GSDs) are inherited disorders of metabolism resulting from the
deficiency of individual enzymes involved in the synthesis, transport, and degradation of …

The diagnosis of late‐onset (childhood and adult) Pompe disease can often be challenging,
as it is a rare disease and the heterogeneous clinical presentation can mimic the …

Macroautophagy (often referred to as autophagy) is an evolutionarily conserved intracellular
system by which macromolecules and organelles are delivered to lysosomes for …

BACKGROUND There is worldwide interest in newborn screening for lysosomal storage
diseases because of the development of treatment options that give better results when …