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 …

Activity-based protein profiling (ABPP) is a technique that uses highly selective active-site
targeted chemical probes to label and monitor the state of proteins. ABPP integrates the …

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 …

Lysosomal storage diseases are a group of rare, inborn, metabolic errors characterized by
deficiencies in normal lysosomal function and by intralysosomal accumulation of …

Background Pompe's disease is a metabolic myopathy caused by a deficiency of acid alpha
glucosidase (GAA), an enzyme that degrades lysosomal glycogen. Late-onset Pompe's …

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 …

Background: Pompe disease is a progressive metabolic neuromuscular disorder resulting
from deficiency of lysosomal acid α-glucosidase (GAA). Infantile-onset Pompe disease is …

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

Background Unexplained left ventricular hypertrophy often prompts the diagnosis of
hypertrophic cardiomyopathy, a sarcomere-protein gene disorder. Because mutations in the …