نتایج جستجو برای: gaucher cell
تعداد نتایج: 1685692 فیلتر نتایج به سال:
how to cite this article: salehpour sh. diagnostic methods for gaucher disease. iran j child neurol. 2015 autumn;9:4(suppl.1): 14-15. pls see pdf.
Gaucher-like or pseudo-Gaucher cells have been noted in a variety of conditions including acute lymphoblastic leukemia, Hodgkin's disease, thalassemia, and multiple myeloma. They have an eccentric, lobulated nucleus, foamy cytoplasm but lack the tubular inclusions seen in Gaucher cells. The pseudo-Gaucher cells have distinct appearances on electron microscopy which distinguish them from true Ga...
one marrow cells with the morphological characteristics of Gaucher cells, called pseudo Gaucher cells, have been described in several hematologic disorders, 1-4 including multiple myeloma. 5 These cells have been considered storage cells, as they do not directly belong to the proliferating cell clone. We describe the presence of atypi-cal plasma cells, morphologically resembling Gaucher cells, ...
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...
1. Galvin JE, Lee VM, Trojanowski JQ. Synucleinopathies: clinical and pathological implications. Arch Neurol 2001: 58 (2): 186–190. 2. Mazzulli JR, Xu YH, Sun Y et al. Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies. Cell 2011: 146 (1): 37–52. 3. Cookson MR. A feedforward loop links Gaucher and Parkinson’s diseases? Cell 2011: 146 (1)...
Glucocerebrosidase is a lysosomal hydrolase involved in the breakdown of glucosylceramide. Gaucher disease, a recessive lysosomal storage disorder, is caused by mutations in the gene GBA1 Dysfunctional glucocerebrosidase leads to accumulation of glucosylceramide and glycosylsphingosine in various cell types and organs. Mutations in GBA1 are also a common genetic risk factor for Parkinson diseas...
Current knowledge of the haematological and onco-haematological complications of type 1 Gaucher disease has been reviewed with the aim of identifying best clinical practice for treatment and disease management. It was concluded that: (i) Awareness of typical patterns of cytopenia can help clinicians distinguish haematological co-morbidities. (ii) Red blood cell studies and complete iron metabol...
INTRODUCTION Gaucher disease is the first lysosomal disease to benefit from enzyme replacement therapy, thus serving as model for numerous other lysosomal diseases. Alglucerase was the first glucocerebrosidase purified from placental extracts, and this was then replaced by imiglucerase - a Chinese hamster ovary cell-derived glucocerebrosidase. AIM The aim was to review the evidence underlying...
BACKGROUND Gaucher disease (GD) is caused by mutations in the GBA1 gene which encodes lysosomal β-glucocerebrosidase (GCase). In GD, partial or complete loss of GCase activity causes the accumulation of the glycolipids glucosylceramide (GlcCer) and glucosylsphingosine in the lysosomes of macrophages. In this manuscript, we investigated the effects of glycolipids accumulation on lysosomal and mi...
Diploid human infant skin fibroblasts cultured from normal infants and Gaucher disease infants, with genetically defective lysosomal glucosylceramide:beta-glucohydrolase activity, had a full range of homologous glycosphingolipids from the simplest (glucosylceramide) to higher neutral derivatives (lactosyl-, trihexosyl- and tetrahexosylceramide) and anionic sialo derivatives (gangliosides) (sial...
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