Pennsylvania started newborn screening for Pompe disease in February 2016. Between
February 2016 and December 2019, 531,139 newborns were screened. Alpha-Glucosidase …

Glycogen storage disease type II (also known as Pompe disease (PD)) is an autosomal
recessive disorder caused by defects in α-glucosidase (AαGlu), resulting in lysosomal …

Brazilian physicians known to be treating patients with Pompe disease (PD) in Brazil. It was
based on the clinical presentation of 7 cases of early-onset PD (EOPD) and 18 cases of late …

Objectives To evaluate the clinical and molecular spectrum, and factors affecting clinical
outcome of patients in India diagnosed with infantile-onset Pompe disease (IOPD). Study …

Pompe disease is a lysosomal storage disease due to deficient acid α-glucosidase (GAA)
activity. Infants with the classic infantile-onset subtype present with severe hypotonia and …

Background As little information is available on children with non-classic presentations of
Pompe disease, we wished to gain knowledge of specific clinical characteristics and …

Background Pompe disease is an autosomal recessive inherited metabolic disorder caused
by a deficiency of the acid α-glucosidase (GAA). Pompe disease manifests as an …

Pompe disease is an autosomal recessive neuromuscular disorder marked by progressive
muscle weakness due to lysosomal buildup of glycogen. Presentation is described as a …

The treatment of later-onset Pompe disease with enzyme replacement therapy may not lead
to significant improvement in muscle function, probably because of the irreversible muscle …

Pompe disease is an autosomal recessive disorder and is caused by a deficiency in acid
alpha-glucosidase (GAA). A broad range of studies have been performed on Pompe …