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J.C., 20th-century Dutch physician. See: Pompe disease.
References in periodicals archive ?
Pompe disease (glycogen storage disease Type II, acid maltase deficiency, and OMIM #232300) is a rare, progressive, autosomal recessive metabolic disorder caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA).
Les operateurs du secteur de la distribution des produits petroliers et leur groupement refusent de donner des commentaires sur la hausse continue des prix a la pompe ni sur celle des marges beneficiaires jugees exagerees.
NASDAQ: BOLD) has selected an optimized clinical development candidate for its Pompe disease program, a serious, progressive genetic disease characterized by severe muscle weakness, respiratory failure leading to ventilator dependence and, in infants, increased cardiac mass and heart failure, the company said.
Biotechnology company Audentes Therapeutics Inc (Nasdaq:BOLD) stated on Tuesday that the data supporting the selection of optimized clinical development candidate were presented at the 14th Annual WORLDSymposium 2018 in Poster #123, titled: "A Novel Hybrid Promoter Directing AAV-mediated Expression of Acid Alpha-Glucosidase to Liver, Muscle and CNS Yields Optimized Outcomes in a Mouse Model of Pompe Disease.
Pipeline Products for Pompe Disease - Comparative Analysis 11
Then came the diagnosis of Pompe disease and the beginning of his treatments, infusions with an enzyme his body was failing to make.
Trump cited Crowley, now 20, as an inspiration for his administration to confront and defeat rare diseases such as Pompe disease.
Scriptiereeks van het Willem Pompe Instituut Voor Strafrechtsetenschappen van de Universteit Ultrecht; Volume 9
This has shown reexpression of cTnT mRNA and protein in skeletal muscle from Pompe patients without cardiac involvement (2).
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.
Ensenamos la nueva palabra, pompe, relacionandola con uno de los objetos desconocidos.
Global Markets Direct's, 'Pompe Disease - Pipeline Review, H1 2016', provides an overview of the Pompe Disease pipeline landscape.