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While people with milder forms of the condition live into their teens and adulthood, babies born with the severest form of Pompe's disease rarely survive their first year.
It is also testament to the substantial expertise that Pharming brings to our collaboration to develop a therapy for Pompe's disease.
Pompe's disease is caused by a genetic defect that prevents the body from producing a crucial enzyme called acid maltase.
alpha]-glucosidase activity in human leucocytes: choice of lymphocytes for the diagnosis of Pompe's disease and the carrier state.
This ordinarily busy household is complicated by the serious and rare illness Pompe's disease, that affects the younger two children.
Pharming's lead product is human alpha-glucosidase, an enzyme replacement therapy for Pompe's disease, a lysosomal storage disorder.
Completion of the licensure agreement gives AGTC the right to develop the AAV technology for injection into human muscle tissues for potential therapy of Alpha-1 antitrypsin (A1AD) deficiency and Pompe's disease.
Pompase(R) (human alpha-Glucosidase): Pompe's disease
Prenatal diagnosis of Pompe's disease (type II glycogenesis) in chorionic villus biopsy using maltose as a substrate.
Contributing factors included increased staffing and increased development costs for human alpha-Glucosidase for Pompe's disease and for human Lactoferrin for heparin neutralization.
Pompe's disease is a lethal hereditary muscle disease for which there is currently no treatment.