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Gaucher's disease

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Gaucher's disease

[gō′shāz di‚zēz]
(medicine)
A rare chronic, probably hereditary disease in which cells loaded with cerebrosides become localized in reticuloendothelial tissue and eventually cause tissue destruction; manifestations include enlargement of the spleen, bronzing of the skin, and anemia. Also known as cerebroside lipoidosis; familial splenic anemia.
McGraw-Hill Dictionary of Scientific & Technical Terms, 6E, Copyright © 2003 by The McGraw-Hill Companies, Inc.
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References in periodicals archive
The NGF also would like to impress on the public that having Gaucher's disease is no longer a death sentence as there are currently many options, tools, treatments and programs available for those with the disease.
* A review of the Gaucher's Disease products under development by companies and universities/research institutes based on information derived from company and industry-specific sources
OF CASES PERCENTAGE Glycogen storage diseases 23 70% Gaucher's disease 5 15% Niemann-picks disease 5 15% Table 8: Inborn errors of metabolism with examples Metabolic Disorder Examples Disorders of protein Aminoacidopathies, metabolism Organic acidopathies, Urea cycle defects Disorders of Carbohydrate carbohydrate intolerance metabolism disorders, Glycogen Storage Disorders, Disorders of Gluconeogenesis and Glycogenolysis.
Gaucher's disease is the most common genetic disease among the Ashkenazi Jewish population of Eastern European ancestry.
"We are excited about this collaboration, which represents a significant step toward bringing--for the first time--a plant-based enzyme replacement treatment option to patients affected by Gaucher's disease," comments Dr.
Surgical management of spinal involvement in children and adolescents with Gaucher's disease. J Pediatr Orthop.
His brother-in-law, Ron Dorfman, said Levin suffered from Gaucher's disease, an inherited enzyme-deficiency disorder that causes victims to bleed and bruise easily.
The recent arrival on the market of a modified glucocerebrosidase (Ceredase) for Gaucher's Disease and last year's approval of PEG-adenosine deaminase for severe combined immunodeficiency disease illustrate the growing capabilities of the pharmaceutical industry to provide endogenous compounds that patients are lacking.
Bone marrow aspiration was performed in the cases of Idiopathic thrombocytopenic purpura, while haemoglobin electrophoresis and osmotic fragility were performed in haemolytic anaemia and enzyme assay in Gaucher's disease were done.
In October 2004 the drug was approved in Switzerland as an oral therapy for type 1 Gaucher's disease, the firm added.
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