Glycogen storage diseases (GSDs) are a group of rare, monogenic disorders that share a
defect in the synthesis or breakdown of glycogen. This Primer describes the multi-organ …

Pompe disease is a rare and deadly muscle disorder. As a clinical entity, the disease has
been known for over 75 years. While an optimist might be excited about the advances made …

Pompe disease, a rare lysosomal storage disease caused by deficiency of the lysosomal
acid α-glucosidase (GAA), is characterized by glycogen accumulation, triggering severe …

Pompe's disease, glycogen-storage disease type II, and acid maltase deficiency are
alternative names for the same metabolic disorder. It is a pan-ethnic autosomal recessive …

Disclaimer: ACMG standards and guidelines are designed primarily as an educational
resource for physicians and other health care providers to help them provide quality medical …

A recently proposed therapeutic approach for lysosomal storage disorders (LSDs) relies
upon the ability of transcription factor EB (TFEB) to stimulate autophagy and induce …

OBJECTIVE: To characterize the natural progression of infantile-onset Pompe disease.
STUDY DESIGN: Retrospective chart reviews of 168 patients with documented acid α …

Deficiency of acid alpha glucosidase (GAA) causes Pompe disease, which is usually fatal if
onset occurs in infancy. Patients synthesize a non-functional form of GAA or are unable to …

In 1964, Christian de Duve first suggested that enzyme replacement might prove therapeutic
for lysosomal storage diseases (LSDs). Early efforts identified the major obstacles, including …

In a previous 52-wk trial, treatment with alglucosidase alfa markedly improved
cardiomyopathy, ventilatory function, and overall survival among 18 children< 7 mo old with …