Long term follow-up of cerebrovascular abnormalities in late onset Pompe disease (LOPD)
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Neurology"
DOI: 10.1007/s00415-017-8396-0
Abstract: Pompe disease or glycogen storage disease type II (GSDII; OMIM #232300) is a rare recessive metabolic disorder caused by a deficiency in the lysosomal acid a-glucosidase activity resulting in lysosomal glycogen accumulation in different tissues.… read more here.
Keywords: lopd; late onset; pompe disease; disease ... See more keywords
A retrospective cohort study describing the disease burden in patients with Pompe disease treated with enzyme replacement therapy in the United States.
Sign Up to like & getrecommendations! Published in 2025 at "Journal of neuromuscular diseases"
DOI: 10.1177/22143602251387210
Abstract: ObjectiveTo describe the disease burden in patients with Pompe disease treated with enzyme replacement therapy (ERT) in the US as defined by comorbid conditions, supportive services, and treatment patterns.MethodsA retrospective cohort study (01/01/2012-09/30/2022) was conducted… read more here.
Keywords: disease burden; disease; lopd; therapy ... See more keywords