نتایج جستجو برای: gaucher cell
تعداد نتایج: 1685692 فیلتر نتایج به سال:
Splenectomy can treat conditions characterized by hemolysis or thrombocytopenia caused autoantibodies splenic reticuloendothelial function, as well disorders massive splenomegaly and hypersplenism with cytopenias, such hereditary spherocytosis, transfusion-dependent thalassemia, immune thrombocytopenia, autoimmune hemolytic anemia, marginal zone lymph is no longer used for Hodgkin disease stagi...
The involvement of the protein α-synuclein (SNCA) in the pathogenesis of Parkinson's disease is strongly supported by the facts that (i) missense and copy number mutations in the SNCA gene can cause inherited Parkinson's disease; and (ii) Lewy bodies in sporadic Parkinson's disease are largely composed of aggregated SNCA. Unaffected heterozygous carriers of Gaucher disease mutations have an inc...
To the Editor, Bone marrow cells with morphological characteristics similar to Gaucher cells and without cytoplasmic crystalline inclusions are rare. These Gaucher-like or pseudo-Gaucher cells can be seen in a variety of conditions such as acute lymphoblastic leukemia, multiple myeloma, myelodysplasia, Hodgkin’s disease, thalassemia, and disseminated mycobacterial infection [1,2,3,4,5,6,7,8]. S...
Nucleotide sequence analysis of a genomic clone from an Ashkenazic Jewish patient with type 1 Gaucher disease revealed a single-base mutation (adenosine to guanosine transition) in exon 9 of the glucocerebrosidase gene. This change results in the amino acid substitution of serine for asparagine. Transient expression studies following oligonucleotide-directed mutagenesis of the normal cDNA confi...
BACKGROUND Gaucher disease is an inborn, autosomal recessive error of the metabolism which belongs to the group of lysosomal storage disorders. OBJECTIVE This work reports on the treatment of Gaucher disease in several members of the same family from the countryside of Maranhão. METHODS This was an observational, retrospective and prospective, descriptive case study about the efficacy of en...
Direct enzyme replacement therapy (ERT) has been introduced as a means to treat a number of rare, complex genetic conditions associated with lysosomal dysfunction. Gaucher disease was the first for which this therapy was applied and remains the prototypical example. Although ERT using recombinant lysosomal enzymes has been shown to be effective in altering the clinical course of Gaucher disease...
OBJECTIVE Glucocerebrosidase gene (GBA) variants that cause Gaucher disease are associated with Parkinson disease (PD) and dementia with Lewy bodies (DLB). To investigate the role of GBA variants in multiple system atrophy (MSA), we analyzed GBA variants in a large case-control series. METHODS We sequenced coding regions and flanking splice sites of GBA in 969 MSA patients (574 Japanese, 223 ...
Gaucher disease (GD), the most common lysosomal storage disorder (LSD), is caused by defects in the activity of the lysosomal enzyme, glucocerebrosidase, resulting in intracellular accumulation of glucosylceramide (GlcCer). Neuronopathic forms, which comprise only a small percent of GD patients, are characterized by neurological impairment and neuronal cell death. Little is known about the path...
Many recessive genetic disorders are found at a higher incidence in people of Ashkenazi Jewish (AJ) descent than in the general population. The American College of Medical Genetics and the American College of Obstetricians and Gynecologists have recommended that individuals of AJ descent undergo carrier screening for Tay Sachs disease, Canavan disease, familial dysautonomia, mucolipidosis IV, N...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید