نتایج جستجو برای: gaucher disease
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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...
Background: Gaucher disease is an autosomal recessive inherited lysosomal storage disorder that affects many of the body's organs and tissues by defective function of the catabolic enzyme β-glucocerebrosidase. Gene therapy is one of the efficient ways for treatment of this disease. Due to the lack of appropriate animal models, in the field of gene therapy little progress has been done.Mate...
how to cite this article: mozafari h, taghikhani m, khatami sh, alaei mr, vaisi-raygani a, rahimi z. chitotriosidase activity and gene polymorphism in iranian patients with gaucher disease and sibling carriers. iran j child neurol. autumn 2016; 10(4):62-70. abstract objective chitotriosidase (ct) activity is a useful biomarker for diagnosis and monitoring of gaucher disease (gd). its applicatio...
Gaucher disease is caused by inherited deficiency of lysosomal glucocerebrosidase. Proteome analysis of laser-dissected splenic Gaucher cells revealed increased amounts of glycoprotein nonmetastatic melanoma protein B (gpNMB). Plasma gpNMB was also elevated, correlating with chitotriosidase and CCL18, which are established markers for human Gaucher cells. In Gaucher mice, gpNMB is also produced...
Gaucher disease is an inherited lysosomal storage disorder caused by mutations in the gene that encodes the lysosomal enzyme glucocerebrosidase. Inadequate enzymatic activity causes cells to become engorged due to an accumulation of glycolipids. Engorged cells then accumulate in various organs, resulting in a range of signs and symptoms. Gaucher disease occurs worldwide but is more common among...
INTRODUCTION Gaucher disease is an autosomal recessive systemic condition, and the most common of the lysosomal storage disorders. It is characterized by lipid accumulation in certain cells and organs, particularly macrophages, which appear on light microscopy as 'Gaucher cells' or vacuolated lipid-laden reticuloendothelial cells. Long bone involvement is common in Gaucher disease, whereas cran...
Cytokines; Gaucher disease; Pathogenesis; Bone disease; Pulmonary disease Abstract Gaucher disease (GD) is themost frequently encountered lysosomal storage disease caused by inborndefects of themembrane-bound lysosomal enzyme, acidb-glucosidase or glucocerebrosidase. This defective activity causes an accumulation of glucocerebroside (glucosylceramide) in the lysosomes of cells derived from the ...
In this special issue the relationship of Gaucher disease to malignancy is explored in depth. For many years, multiple reports have attempted to substantiate this relationship, but until recently, the reported studies have not been convincing. Rosenbloom and Weinreb present an up-to-date review on Gaucher disease so the reader will understand the clinical, pathophysiological, and molecular aspe...
Both Gaucher disease patients and heterozygous glucocerebrosidase mutation carriers are at increased risk of Parkinson's disease. Retinal thinning has been reported in early Parkinson's disease. Here we used optical coherence tomography to demonstrate thinning of the retinal ganglion cell layer in Gaucher disease patients and carriers who manifest clinical markers of potential early neurodegene...
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