Results 31 to 40 of about 5,176,506 (186)
The article is dedicated to modern approaches to treatment of Gaucher’s disease. The authors list the primary aspects of the disease and present data on the origin and introduction of pathogenetic enzyme replacement therapy to clinical practice.
O. S. Gundobina +3 more
doaj +1 more source
Multidrug resistance and myelomonocytic leukaemia in gaucher's disease [PDF]
B Krishnan +4 more
doaj +1 more source
New Cellular Culprits in Gaucher's Disease
Gaucher's disease is caused by defects in osteoblasts, dendritic cells, and T cells, as well as macrophages.
Christoph Buettner
core +1 more source
Gaucher's disease: a case report [PDF]
Gaucher's disease (GD) is an autosomal recessive disorder, characterized by lack of acid β-glucosidase (glucocerebrosidase) enzyme resulting in accumulation of glucosylceramide in different organs.
Rameshwar Ninama +7 more
core +1 more source
Although Gaucher disease is a rare disorder, recent developments in novel means for therapeutic intervention have invigorated both academic research and pharmaceutical industry discovery programmes. The common mutations found in the lysosomal enzyme deficient in Gaucher disease, beta-glucocerebrosidase, earmark these proteins for destruction by the ...
openaire +3 more sources
Gaucher disease is the commonest lysosomal storage disease seen in India and worldwide. It should be considered in any child or adult with an unexplained splenohepatomegaly and cytopenia which are seen in the three types of Gaucher disease. Type 1 is the non-neuronopathic form and type 2 and 3 are the neuronopathic forms.
openaire +2 more sources
Splenic lipids in Gaucher's disease
Column chromatography (on cellulose, silicic acid, and Florisil) and thin-layer chromatography were employed for the separation and purification of lipid fractions from normal and Gaucher spleens.
N.G. Kennaway, L.I. Woolf
doaj +1 more source
Objective The objective of this study was to explore the association between 18 kDa translocator protein (TSPO)‐positron emission tomography (PET)–measurable glial activation and serum chitotriosidase (CHIT1) in people with multiple sclerosis (pwMS), and its expression in postmortem MS brain tissue.
Venla Ahola +14 more
wiley +1 more source
Pulmonary Gaucher's disease: High-resolution computed tomographic features
CT findings in pulmonary Gaucher's disease have not been previously reported. Chest radiograph of a patient with pulmonary involvement in type I Gaucher's disease proven by biopsy showed linear and reticulo-nodular opacities.
Tunaci, Atadan +2 more
core +1 more source
The time course of the clearance from the blood and the tissue localization of [14C]L-glucosylceramide, a nonmetabolizable enantiomorph of D-glucosylceramide that accumulates in Gaucher's disease, has been determined.
T Tokoro, A E Gal, L L Gallo, R O Brady
doaj +1 more source

