Ontology highlight
ABSTRACT:
SUBMITTER: Sifi Y
PROVIDER: S-EPMC5317144 | biostudies-literature | 2017
REPOSITORIES: biostudies-literature
Sifi Y Y Medjroubi M M Froissart R R Taghane N N Sifi K K Benhabiles A A Lemai S S Semra S S Benmekhebi H H Bouderda Z Z Abadi N N Hamri A A
Journal of neurodegenerative diseases 20170206
Pompe's disease is a metabolic myopathy caused by a deficiency of acid alpha-glucosidase (GAA), also called acid maltase, an enzyme that degrades lysosomal glycogen. The clinical presentation of Pompe's disease is variable with respect to the age of onset and rate of disease progression. Patients with onset of symptoms in early infancy (infantile-onset Pompe disease (IOPD)) typically exhibit rapidly progressive hypertrophic cardiomyopathy and marked muscle weakness. Most of them die within the f ...[more]