clinical manifestations of type 1 gaucher disease
نویسندگان
چکیده
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 disease: clinical features and natural history. baillieres clin haematol. 1997 dec;10(4):657-89.
منابع مشابه
Orthopaedic manifestations of Gaucher disease.
Gaucher disease is a rare, hereditary disease caused by lack of a lysosomal enzyme. This results in the accumulation of glucocerebroside in the cells of the reticuloendothelial system, including the bone marrow. The orthopaedic manifestations of this disease are important for the orthopaedic surgeon to recognize and understand. Patients with Gaucher disease are at risk for pathologic fracture, ...
متن کاملDifferential effects of enzyme supplementation therapy on manifestations of type 1 Gaucher disease.
BACKGROUND In type 1 Gaucher disease (GD), the accumulation of glucocerebroside in macrophages, caused by deficient activity of glucocerebrosidase, results in a variety of disease manifestations. In addition to the characteristic features of hepatosplenomegaly, cytopenia, and bone abnormalities, resting energy expenditure (REE) and glucose production are increased. In this study the effects of ...
متن کاملTransformation 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...
متن کاملCoxarthritis as the Presenting Symptom of Gaucher Disease Type 1
Gaucher disease (GD) type 1 is the most common lysosomal storage disorder due to beta glucocerebrosidase deficiency leading to an abnormal accumulation of its substrate, glucocerebroside, in the mononuclear phagocyte system. The disease presentation is usually characterized by signs and symptoms related to hypersplenism, such as splenomegaly, anaemia, thrombocytopenia and leucopenia. Skeletal d...
متن کاملVelaglucerase alfa in the treatment of Gaucher disease type 1.
Gaucher disease is an autosomal recessively inherited lysosomal storage disease that results from the defective activity of the enzyme acid β-glucosidase (glucocerebrosidase). Velaglucerase alfa was recently developed and approved as an alternative form to imiglucerase enzyme therapy. Despite differences in primary structure and glycosylation patterns, recent preclinical and clinical trials of ...
متن کاملtype 2 gaucher disease (acute infantile gaucher disease or neuropathic type)
how to cite this article: taghdiri mm. type 2 gaucher disease (acute infantile gaucher disease or neuropathic type). iran j child neurol autumn 2012; 6:4 (suppl. 1):12. pls see pdf.
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عنوان ژورنال:
iranian journal of child neurologyجلد ۶، شماره ۴، صفحات ۱۳-۱۴
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