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- Pompe Disease: Symptoms Treatment - Cleveland Clinic
Pompe disease is a genetic condition in which a complex sugar called glycogen builds up in the lysosomes of your body’s cells The disease occurs when you lack a specific digestive enzyme called acid alpha-glucosidase (GAA)
- Pompe Disease - Symptoms, Causes, Treatment | NORD
Pompe disease is a rare disease continuum with variable rates of disease progression and different ages of onset First symptoms can occur at any age from birth to late adulthood Earlier onset compared to later onset is usually associated with faster progression and greater disease severity
- Pompe Disease | Newborn Screening
Find information about newborn screening for Pompe disease, including causes, signs, symptoms, and treatment
- Glycogen storage disease type II - Wikipedia
Glycogen storage disease type II (GSD-II), also called Pompe disease, and formerly known as GSD-IIa or Limb–girdle muscular dystrophy 2V, is an autosomal recessive metabolic disorder [1] which damages muscle and nerve cells throughout the body
- Pompe Disease: a Clinical, Diagnostic, and Therapeutic Overview
This review summarizes the clinical presentation and provides an update on the current strategies for diagnosis of Pompe disease We will review the available treatment options
- Newborn Screening FACT Sheet Pompe Disease
The muscle weakness in this disorder leads to serious breathing problems and most children with non-classic infantile-onset Pompe Disease live only into early childhood
- Updates in Pompe Disease: Overview and Emerging Treatment Strategies
Evaluation and Management of Infants With a Positive NBS for Pompe Disease1-3 Developed with the expertise of Barbara K Burton, MD, Northwestern University Feinberg School of Medicine, Ann Robert H Lurie Children’s Hospital of Chicago, Illinois
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