Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry
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منابع مشابه
Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry
This study tests the hypothesis that the prevalence of severe clinical manifestations in Gaucher disease type 1 (GD1) patients at the time of treatment initiation has changed since alglucerase/imiglucerase enzyme replacement therapy (ERT) was approved in the United States (US) in 1991. US alglucerase/imiglucerase-treated GD1 patients from the International Collaborative Gaucher Group Gaucher Re...
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118 Gaucher disease is the most common lysosomal storage disorder (Box 1). A defi ciency of the enzyme glucocerebrosidase (Figure 1) causes accumulation of the glycolipid glucocerebroside in macrophages throughout the body. In the viscera, glucocerebroside arises mainly from the biodegradation of red and white blood cells. In the brain, glucocerebroside arises from the turnover of complex lipid...
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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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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...
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In Gaucher disease (GD), deficiency of lysosomal acid β-glucosidase results in a broad phenotypic spectrum that is classified into three types based on the absence (type 1 [GD1]) or presence and severity of primary central nervous system involvement (type 2 [GD2], the fulminant neuronopathic form, and type 3 [GD3], the milder chronic neuronopathic form). Enzyme replacement therapy (ERT) with im...
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ژورنال
عنوان ژورنال: American Journal of Hematology
سال: 2017
ISSN: 0361-8609
DOI: 10.1002/ajh.24801