Pompe disease (GSD II) is an autosomal recessive disorder caused by deficiency of the
lysosomal enzyme acid-a-glucosidase (GAA; EC 3.2. 1.20), leading to generalized …

Abstract Purpose of Review This review summarizes the clinical presentation and provides
an update on the current strategies for diagnosis of Pompe disease. We will review the …

Pompe disease is a lysosomal storage disorder caused by a deficiency of the enzyme acid
alpha-glucosidase. Patients have skeletal muscle and respiratory weakness with or without …

Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common genetically
inherited myopathies in adults. It is characterized by incomplete penetrance and variable …

Pompe disease (PD) is an autosomal recessive disorder caused by mutations in the GAA
gene that lead to a deficiency in the acid alpha-glucosidase enzyme. Two clinical …

Recent advances in bioengineering have enabled cell culture systems that more closely
mimic the native cellular environment. Here, we demonstrated that human induced …

Pompe disease (PD) is a potentially lethal illness involving irreversible muscle damage
resulting from glycogen storage in muscle fiber and activation of autophagic pathways. A …

Glycogen storage disease type II (GSDII, Pompe disease) is a rare metabolic disorder
caused by a deficiency of acid alpha-glucosidase (GAA), an enzyme localized within …

Background Skeletal muscle atrophy has been reported in patients with Parkinson disease
(PD). The purpose of this study was to examine the potential implication of interleukin 1 beta …

Pompe disease, which is due to acid alpha-glucosidase deficiency, is characterized by
skeletal muscle dysfunction attributed to the accumulation of glycogen-filled lysosomes and …