glucocerebroside/krvavitev

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Hemorrhagic aspects of Gaucher disease.

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Prijava / prijava

Gaucher disease (GD) is an inherited lysosomal disorder, originating from deficient activity of the lysosomal enzyme glucocerebrosidase (GCase). Normally, GCase hydrolyzes glucocerebroside (GC) to glucose and ceramide; however, impaired activity of this enzyme leads to the accumulation of GC in

"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"

Orthotopic liver transplantation in two adults with Niemann-Pick and Gaucher's diseases: implications for the treatment of inherited metabolic disease.

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Prijava / prijava

Two adults were seen with cirrhosis caused by different lipid storage diseases. A 42-yr-old woman with Niemann-Pick disease type B had marked hepatomegaly, ascites and recent variceal bleeding. Her evaluation showed chronic bilateral pulmonary infiltrates, multiple stigmata of chronic liver disease

Small Bowel Mucosal Involvement and Mesenteric Mass Formation in a Young Female with Type 3 Gaucher Disease. A Case Report.

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Prijava / prijava

Gaucher Disease arises due to a deficiency in the enzyme glucocerebrosidase and is the most common lysosomal storage disease. This enzyme deficiency leads to the accumulation of glucocerebroside within macrophages (Gaucher cells) and the resulting infiltration of these cells into organs can cause

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: from fundamental research to effective therapeutic interventions.

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Prijava / prijava

Gaucher disease type I is the most common lysosomal storage disorder, with a prevalence of 1:50,000 in most countries. It is caused by an autosomally recessive inherited deficiency of the lysosomal enzyme glucocerebrosidase, leading to the accumulation of glucocerebroside in the macrophages. The

Acquired pseudo-pseudo Bernard-Soulier syndrome complicating Gaucher's disease.

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OBJECTIVE To investigate the abnormality in platelet function in two patients with type I Gaucher's disease causing a chronic bleeding tendency despite normalisation of the platelet count after spleen removal. METHODS Routine laboratory methods were used to assess baseline coagulation. Platelet

[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

Platelet function abnormalities in Gaucher disease patients.

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Prijava / prijava

Bleeding manifestations are common in Gaucher disease patients. Although usually attributed to thrombocytopenia, some patients with relatively high platelet counts and normal coagulation tests have hemorrhagic phenomena. To investigate whether perturbed platelet function could explain these bleeding

Oral aspects of Gaucher's disease: a literature review and case report.

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Prijava / prijava

BACKGROUND Gaucher's disease (GD) is a lysosomal storage disease with a high incidence in Ashkenazi Jews. The disease is caused by an autosomally recessive inherited deficiency of the lysosomal enzyme glucocerebrosidase, leading to the accumulation of glucocerebroside in macrophages. The lipid-laden

Orthopaedic manifestations of Gaucher disease.

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Prijava / prijava

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

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