• The specific situation of the patient. Unless otherwise provided for by national regulations,
off-label use of medication should be limited to situations where it is in the patient's interest …

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 …

The recommendations listed in this document are, whenever possible, evidence based. An
extensive evidence review was conducted through January 2011. Searches were limited to …

The recommendations listed in this document are, whenever possible, evidence based. An
extensive evidence review was conducted through January 2011. Searches were limited to …

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 …

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 …