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glucocerebroside/seizures
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Upregulation of proinflammatory cytokines in the fetal brain of the Gaucher mouse.
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Gaucher disease is caused by a deficiency of glucocerebrosidase. Patients with Gaucher disease are divided into three major phenotypes: chronic nonneuronopathic, acute neuronopathic, and chronic neuronopathic, based on symptoms of the nervous system, the severity of symptoms, and the age of disease
[Diagnosis and therapy of Gaucher disease. Current recommendations of German therapy centers in the year 2000].
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BACKGROUND
Gaucher's disease is the autosomally recessively inherited deficiency of the lysosomal enzyme glucocerebrosidase. Increasing storage of glucocerebrosides leads to a multisystem disease, the prevalence of which is about 1:40,000 in central Europe and up to 1:2,000 in some other countries
The role of neurogenetics in Gaucher disease.
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Gaucher disease is the most prevalent hereditary metabolic storage disorder, and the most common genetic disease in individuals of Ashkenazic Jewish ancestry. Patients with Gaucher disease have been classified into three clinical phenotypes. Patients with type 1 disease exhibit markedly variable
Gaucher's disease: rare presentation of a rare disease.
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Gaucher's disease is a rare lysosymal storage disorder characterized by deposition of glucocerebroside in cells of the macrophage monocyte system. Gaucher's disease has 3 types-non-neuronopathic (type I), acute neuronopathic (type II), and chronic neuronopathic (type III). It generally presents with
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