نتایج جستجو برای: gaucher cell
تعداد نتایج: 1685692 فیلتر نتایج به سال:
purpose: to describe the variability of ocular and systemic findings in two brothers with gaucher's disease. case report: ophthalmic, general clinical evaluation and enzymatic studies were performed in two brothers, 14 and 7 years old with gaucher’s disease. mental retardation, occipital meningomyelocele and gaucher cells in bone marrow in addition to high myopia and various fundus abnorma...
Gaucher disease is an autosomal recessive lysosomal storage disorder due to deficiency of the lysosomal enzyme glucocerebrosidase. Three clinical phenotypes, type 1, nonneuronopathic; and types 2 and 3, acute and subacute neuronopathic are recognized. The incidence of Gaucher disease in the Thai population is unknown, but likely under-diagnosed. We performed molecular analysis in four patients,...
Gaucher disease, the inherited deficiency of lysosomal glucocerebrosidase, is characterized by the presence of glucosylceramide-laden macrophages resulting from impaired digestion of aged erythrocytes or apoptotic leukocytes. Studies of macrophages from patients with type 1 Gaucher disease with genotypes N370S/N370S, N370S/L444P or N370S/c.84dupG revealed that Gaucher macrophages have impaired ...
UNLABELLED Among the known genetic risk factors for Parkinson disease, mutations in GBA1, the gene responsible for the lysosomal disorder Gaucher disease, are the most common. This genetic link has directed attention to the role of the lysosome in the pathogenesis of parkinsonism. To study how glucocerebrosidase impacts parkinsonism and to evaluate new therapeutics, we generated induced human p...
background gaucher’s disease (g.d.) is an autosomal recessive disorder resulting from the accumulation of glucocerebrosidase in the cells of macrophage-monocyte system as a result of a deficiency in lysosomal glucocerebrosidase. this enzyme is encoded by a gene on chromosome-1. here we report a case of gaucher’s disease .g.d is rare in yazd. case reports we reported a patient that presented wit...
Sir, McNeill highlights in his Letter to the Editor that glucocerebrosidase (GBA) gene mutation carriers have reduced glucosylceramidase protein and enzyme activity based on measurements obtained from patient fibroblasts (McNeill et al., 2014). He links this to our data recently presented in Murphy et al. (2014) identifying similar findings in brain regions associated with increased a-synuclein...
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...
Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel Department of Structural Biology, Weizmann Institute of Science, Rehovot 76100, Israel Department of Cell Research and Immunology, Tel Aviv University, Ramat-Aviv 69978, Israel Department of Neurobiology, Weizmann Institute of Science, Rehovot 76100, Israel Gaucher Clinic, Sha’are Zedek Medical Center, Jeru...
Gaucher mice, created by targeted disruption of the glucocerebrosidase gene, are totally deficient in glucocerebrosidase and have a rapidly deteriorating clinical course analogous to the most severely affected type 2 human patients. An ultrastructural study of tissues from these mice revealed glucocerebroside accumulation in bone marrow, liver, spleen, and brain. This glycolipid had a character...
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