Pompe disease


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Pompe disease

[′pämp di‚zēz]
(medicine)
A hereditary glycogen storage disease in humans arising from deficiency of a lysosomal enzyme and characterized by weakness, enlargement of the heart and cardiac failure, enlargement of the tongue, and moderate enlargement of the liver.
References in periodicals archive ?
Caelan was diagnosed with nonclassic infantile Pompe disease - a genetic muscle weakness disease.
Naming some genetic disorders, Dr Fareeduddin said that four patients of Gaucher disease and one of Pompe disease were treated at Indus Hospital.
Background: Pompe disease is a rare lysosomal glycogen storage disorder linked to the acid alpha-glucosidase gene (GAA).
M2 PHARMA-February 13, 2018-Audentes Therapeutics Selects Optimized Clinical Development Candidate for Pompe Disease Program
M2 EQUITYBITES-February 7, 2018-Audentes Therapeutics selects AT982 as the clinical development candidate for Pompe disease
Audentes Therapeutics last night announced it has selected an optimized clinical development candidate for its Pompe disease program.
USPRwire, Thu Nov 02 2017] Pompe Disease - Pipeline Review, H2 2015 Summary Global Markets Direct s, Pompe Disease - Pipeline Review, H2 2015 , provides an overview of the Pompe Disease s therapeutic pipeline.
The committee will also discuss other conditions not on the Texas list, including Pompe disease, MPS-1 and X-ALD.
Doctors diagnosed her newborn son, Magglio, with Pompe disease, a rare and deadly genetic disorder that leads to a build-up of glycogen in the body.
He also praised the wife of the Navy Seal who died during the heavily panned operation in Yemen and did the same to a young woman stricken with Pompe disease, though the latter has been questioned by disability advocates after Trump mocked a disabled reporter twice during his campaign, according to (http://www.
Sanofi Genzyme, the specialty care business unit of Sanofi, has initiated a pivotal Phase in trial named COMET for the investigational therapy neoGAA, a second-generation enzyme replacement therapy being studied for the treatment of Pompe disease.
Elevated plasma cardiac troponin T levels caused by skeletal muscle damage in Pompe disease.