glucocerebroside/infarkt

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"Cold bone scans" as a sign of hemorrhagic infarcts of the spine in Gaucher's disease.

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Prijava / prijava

The most common form of Gaucher's disease, type 1 (chronic non-neuronopathic), results in accumulation of glucocerebroside in reticuloendothelial cells of the spleen, liver and bone marrow, with frequent occurrence of bone pain due to vaso-occlusive crisis. We report the finding of a "cold"

Hypercoagulability, parkinsonism, and Gaucher disease.

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Prijava / prijava

Gaucher disease (GD) is a lysosomal disorder caused by inherited deficiency of glucocerebrosidase (GCase), resulting in the accumulation of glucocerebroside in macrophages, termed "Gaucher cells," leading to multiorgan involvement, with hepatosplenomegaly, cytopenias, pulmonary hypertension, and

Gaucher's disease in a patient presenting with hip and abdominal pain.

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Prijava / prijava

Gaucher's disease is characterized by glucocerebroside accumulation in the cells of the reticuloendothelial system. There are three subtypes. The most common is type 1, known as the non-neuropathic form. Pancytopenia, hepatosplenomegaly and bone lesions occur as a result of glucocerebroside

Gaucher's disease involving the spleen.

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Prijava / prijava

Gaucher's disease is a rare inherited disorder that results from progressive accumulation of glucocerebrosides within the reticuloendothelial system and affects the liver, the spleen, the bone marrow and the lymph nodes. Ultrasonography of the spleen typically demonstrates hypoechoic focal masses;

Management of women with Gaucher disease in the reproductive age.

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Prijava / prijava

Gaucher disease (GD) is a lysosomal disorder caused by inherited deficiency of glucocerebrosidase, resulting in the accumulation of glucocerebroside in macrophages, termed "Gaucher cells" (GCs), leading to multiorgan involvement, with hepatosplenomegaly, cytopenias, pulmonary hypertension and

Gaucher disease.

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Prijava / prijava

Gaucher disease is an inherited recessive autosomal metabolic defect due to a deficiency of the lysosomal enzyme beta-glucocerebrosidase. The enzyme substrate, glucocerebroside, accumulates in the body, predominantly in the liver, spleen, and bone marrow. Osteoarticular manifestations are often

[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: a comprehensive review.

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Prijava / prijava

Gaucher disease (GD) is an inherited error of metabolism due to a deficiency of glucocerebrosidase. This leads to excessive storage of glucocerebroside in the liver, spleen, bone, and bone marrow. Patients develop anemia, thrombocytopenia, hepatosplenomegaly, bone infarcts, aseptic necrosis of bone,

Gaucher disease: review of the literature.

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Prijava / prijava

We present a brief review of Gaucher disease, the most common lysosomal storage disease. Gaucher disease is a rare autosomal recessive disorder characterized by defective function of the catabolic enzyme beta-glucocerebrosidase, leading to an accumulation of its substrate, glucocerebroside, in the

Gaucher Disease: Clinical, Biological and Therapeutic Aspects.

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Prijava / prijava

We present a brief review of Gaucher disease (GD), the most common lysosomal storage disease. GD is a rare autosomal recessive disorder characterized by the defective function of the catabolic enzyme β-glucocerebrosidase (GBA), leading to an accumulation of its substrate, glucocerebroside. Clinical

Bone disease in patients with Gaucher disease.

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Prijava / prijava

Gaucher disease is an inborn error of metabolism due to a deficiency of the lysosomal enzyme glucocerebrosidase. As a result of this deficiency, the substrate glucocerebroside accumulates in the liver, spleen, bone and bone marrow. Bone involvement can lead to abnormalities in bone growth, bone

Clinical manifestations and management of Gaucher disease.

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Prijava / prijava

Gaucher disease is a rare multi-systemic metabolic disorder caused by the inherited deficiency of the lysosomal enzyme β-glucocerebrosidase, which leads to the accumulation of its normal substrate, glucocerebroside, in tissue macrophages with damage to haematological, visceral and bone systems.

Skeletal aspects of Gaucher disease: a review.

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Prijava / prijava

In Gaucher disease, a genetic deficiency in the activity of the lysosomal enzyme beta-glucocerebrosidase (acid beta-glucosidase) causes monocytes and macrophages to store excessive amounts of glucocerebroside in lysosomes. The resulting distended cells are called Gaucher cells, and the pathology

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