pompe disease การใช้

• However, intellectual disability is rarely, if ever, a symptom of Pompe disease.
• INMEGEN has worked with the mutation of a gene associated with Pompe disease.
• Myozyme is FDA approved for replacement therapy for infantile-onset Pompe disease.
• On August 14, 2006, Health Canada approved Myozyme for the treatment of Pompe disease.
• Microscopically, muscles from Danon Disease patients appear similar to muscles from Pompe disease patients.
• Kurson is also the co-author of the personal memoir of biotechnology executive Pompe Disease.
• In Pompe disease, the ERT replaces the deficient lysosomal enzyme acid alpha-glucosidase ( GAA ).
• The conditions under which TMEM251 falls include infantile-onset Pompe disease, caseous tuberculosis granulomas, and endurance exercise training.
• On May 26, 2010 FDA approved Lumizyme, a similar version of Myozyme, for the treament of late-onset Pompe disease.
• Negative enzymatic or molecular genetic testing for Pompe disease can help rule out this disorder as a differential diagnosis.
• Pompe disease, also known as acid maltase deficiency, is caused by a deficiency in an enzyme called acid alpha glucosidase.
• The study was undertaken to evaluate the safety and efficacy of aglucosidase alfa in juvenile and adult patients with Pompe disease.
• The companies said they also have plans to begin testing a second enzyme replacement product to treat Pompe disease by year's end.
• One, a replacement enzyme, like the treatment being studied for Pompe disease, costs $ 170, 000 to $ 340, 000 a year.
• Limitation of the therapy is that it only works with certain mutations : Gaucher's disease, Fabry disease, Pompe disease and Late-onset Tay-Sachs disease.
• They include familiar illnesses like sickle cell anemia and cystic fibrosis, but also many others like Pompe disease that few have heard of.
• In November 2001, Genzyme chief executive Henri Termeer organised a systematic comparison of the various potential drugs in a mouse model of Pompe disease.
• In November 2013, Amicus acquired competitor Callidus Biopharma, thereby obtaining proprietary materials and intellectual property for the enzyme replacement therapy treatment of Pompe disease.
• The company was able to produce enzymes targeting Hunter syndrome, Fabry disease and Pompe disease with expression levels and activity that supported further preclinical development.
• Also, glycogen storage disease type II ( Pompe disease ) is also a defect in lysosomal metabolism, although it is otherwise classified into E74.0 in ICD-10.