نتایج جستجو برای: acute infantile gaucher disease
تعداد نتایج: 1877238 فیلتر نتایج به سال:
A 21-year-old man with a history of sudden rectal hemorrhage was referred to our hospital. Examination disclosed thrombocytopenia and hepatosplenomegaly. A liver biopsy specimen demonstrated Gaucher cells in Glisson's capsule. Additional investigations revealed a low level of leukocyte β-glucosidase activity and common mutations of the glucocerebrosidase gene, L444P/D409H. We diagnosed the pati...
Saposins (A, B, C, and D) are small glycoproteins required for the hydrolysis of sphingolipids by specific lysosomal hydrolases. Concentrations of these saposins in brain, liver, and spleen from normal humans as well as patients with lysosomal storage disease were determined. A quantitative HPLC method was used for saposin A, C, and D and a stimulation assay was used for saposin B. In normal ti...
Pompe disease is a lysosomal storage disease characterized by massive glycogen deposition in skeletal, cardiac and smooth muscle secondary to the deficiency of acid α-glucosidase (GAA) [1]. Once rapidly fatal, it has become a treatable condition since the development of enzyme replacement therapy (ERT) with alglucosidase α (recombinant human GAA [rhGAA], Myozyme/Lumizyme Genzyme Corp. Cambridge...
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 to recognize and understand. Patients with Gaucher disease are at risk for pathologic fracture, ...
Eliglustat is a recently approved oral therapy in the United States and Europe for adults with Gaucher disease type 1 who are CYP2D6 extensive, intermediate, or poor metabolizers (> 90% of patients) that has been shown to decrease spleen and liver volume and increase hemoglobin concentrations and platelet counts in untreated adults with Gaucher disease type 1 and maintain these parameters in pa...
It has recently been emphasised that a subset of patients with type 2 Gaucher disease die in the neonatal period. This report describes an Afghani family with two conceptuses having severe, prenatally detected Gaucher disease. Mutational analysis showed that the family carried a known complex allele which included mutations at amino acids L444P, A456P, and V460V. Although glucocerebrosidase RNA...
The role of heritable thrombophilic risk factors in the pathogenesis of the Perthes' disease is controversial. The clinical and radiological findings of Perthes' disease may be indistinguishable from those of Gaucher's disease, and the most common Jewish N370S Gaucher mutation is threefold greater in patients with Perthes' disease. Familial osteonecrosis of the femoral head is associated with v...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید