11 Αποτελέσματα
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
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"
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
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
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 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
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
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
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
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
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