glucocerebroside/atrofija

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Prospective study of neurological responses to treatment with macrophage-targeted glucocerebrosidase in patients with type 3 Gaucher's disease.

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Prijava / prijava

We prospectively evaluated the clinical and biochemical responses to enzyme-replacement therapy (ERT) with macrophage-targeted glucocerebrosidase (Ceredase) infusions in 5 patients (age, 3.5-8.5 years) with type 3 Gaucher's disease. The patients were followed for up to 5 years. Enzyme dosage ranged

The role of neurogenetics in Gaucher disease.

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Prijava / prijava

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

Bone-marrow transplantation in severe Gaucher's disease.

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Prijava / prijava

We performed allogeneic bone-marrow transplantation of normal cells in an eight-year-old patient with Type 3 Gaucher's disease in an attempt to alter his progressive deterioration. The procedure resulted in complete engraftment of the enzymatically normal donor cells. Donor monocyte precursors were

A model of neuronopathic Gaucher disease.

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Prijava / prijava

Gaucher disease (GD) is a lysosomal disorder involving the accumulation of glucocerebroside in the liver, spleen, bones and brain. Some patients exhibit only systemic disease (type I), but others have additional neurological signs which may lead to rapid neurodegeneration in infancy (type II) or

[Morbus gaucher--a report of two cases].

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Prijava / prijava

BACKGROUND [corrected] Clinical features of inherited glucocerebrosidase deficiency were first described by Phillippe Charles Ernest Gaucher, French physician (1854-1918). Deficiency of glucocerebrosidase leads to the accumulation of the lipid glucocerebroside within the lysosomes of the monocyte

Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestation.

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Prijava / prijava

Gaucher disease, the most common of the sphingolipidoses, results from the inherited deficiency of the enzyme glucocerebrosidase (EC 3.2.1.45). Although type 2 (acute neuronopathic) Gaucher disease is associated with rapidly progressive and fatal neurologic deterioration, the pathophysiologic

Vestibular and Saccadic Abnormalities in Gaucher's Disease.

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Prijava / prijava

Gaucher's disease (GD) is a hereditary lysosomal storage disease characterized by abnormal deposition of glucocerebroside due to the enzyme glucocerebrosidase deficiency, resulting in multi-organ pathology. GD type III has a progressive neurological involvement. We studied the vestibular and

[Bone changes in Gaucher disease].

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Prijava / prijava

Among Ashkenazi-Jews, Gaucher' disease, an autosomal-recessive hereditary genetic defect of sphingolipid metabolism, occurs more frequently than in the general population. Because of lack of the specific b-glucosidase, glucocerebrosidase, there is increased deposition of glucocerebrosides in the

Skeletal complications of Gaucher disease.

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Prijava / prijava

Gaucher disease is a collection of related disorders of sphingolipid catabolism caused by the deficiency of a specific beta-glucosidase. The inefficiency of this enzyme, glucocerebrosidase, to degrade its natural substrate leads to the accumulation of the complex lipid glucocerebroside in tissue

Gaucher disease and the clinical experience with substrate reduction therapy.

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Prijava / prijava

Gaucher disease is caused by an enzymatic defect with consequent accumulation of glucocerebroside. Type I, the non-neuronopathic form, is rather common and panethnic. Patients may present with hepatosplenomegaly, anaemia, thrombocytopenia and skeletal or lung involvement. Enzyme replacement therapy

Gaucher's disease: a review.

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Prijava / prijava

OBJECTIVE To review the epidemiology, pathophysiology, clinical features, diagnosis, and treatment of Gaucher's disease, focusing on the role of enzyme replacement therapy. METHODS A MEDLINE search (from 1984 to July 1995) of English-language literature pertaining to the treatment of Gaucher's

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