Encore! Oral therapy for type 1 Gaucher disease
نویسندگان
چکیده
منابع مشابه
clinical manifestations of type 1 gaucher disease
how to cite this article: salehpour sh. clinical manifestations of type 1 gaucher disease. iran j child neurol autumn 2012; 6:4 (suppl. 1):13-14. pls see pdf. refe r ences 1. beutler e, grabowski ga. gaucher disease. in: metabolic and molecular bases of inherited disease, scriver cr, beaudet al, sly ws, valle d (eds), mcgraw-hill, new york 2001: 3635. 2. cox tm, schofield jp. gaucher’s diseas...
متن کاملBiochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patients
BACKGROUND We retrospectively compared biochemical responses in type 1 Gaucher disease patients to treatment with glycosphingolipid synthesis inhibitors miglustat and eliglustat and ERT. METHODS Seventeen GD1 patients were included (n = 6 eliglustat, (two switched from ERT), n = 9 miglustat (seven switchers), n = 4 ERT (median dose 60U/kg/m). Plasma protein markers reflecting disease burden (...
متن کاملCost-effectiveness of enzyme replacement therapy for type 1 Gaucher disease
OBJECTIVE To evaluate the cost-effectiveness of enzyme replacement therapy (ERT) compared to standard medical care without ERT in the Dutch cohort of patients with type 1 Gaucher disease (GD I). DESIGN Cost-effectiveness analysis was performed using a life-time state-transition model of the disease's natural course. Transition probabilities, effectiveness data and costs were derived from retr...
متن کاملPersistent bone disease in adult type 1 Gaucher disease despite increasing doses of enzyme replacement therapy.
In Gaucher disease type I (GD, OMIM #230800), deficient activity of the enzyme glucocerebrosidase results in hepatosplenomegaly, cytopenia and skeletal disease. Skeletal disease leads to chronic bone pain and/or severe complications such as pathological fractures, avascular necrosis and bone crises. Enzyme Replacement Therapy symptoms of the disease with doses ranging between 15 and 120 U/kg/4w...
متن کاملEnzyme replacement therapy for Gaucher disease.
Gaucher disease is the most common lysosomal storage disease, and the first lysosomal storage disease for which a specific therapy has been developed. Enzyme replacement therapy, with glucocerebrosidase purified from human placentae, was introduced in 1991. Recombinant human glucocerebrosidase, produced by Chinese hamster ovary cells in tissue culture, became available in 1994 and has replaced ...
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ژورنال
عنوان ژورنال: Blood
سال: 2017
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood-2017-02-769034