Results 71 to 80 of about 9,175 (221)
BMC Medical Genetics, 2019 Background Gaucher disease is a rare pan-ethnic, lysosomal storage disorder resulting due to beta-Glucosidase (GBA1) gene defect. This leads to the glucocerebrosidase enzyme deficiency and an increased accumulation of undegraded glycolipid ...
Jayesh Sheth +22 more
doaj +1 more source
The Morphogenesis of Gaucher Cells Investigated by Electron Microscopy [PDF]
Blood, 1969 Abstract The ultrastructure of Gaucher cells in the spleen and in the liver from a case of juvenile type of Gaucher’s disease is described. Different types of cytoplasmic bodies are observed in Gaucher cells. These are surrounded by a single smooth membrane and contain tubular or ring-like structures that in the smaller bodies are set in
N, Pennelli, F, Scaravilli, F, Zacchello
openaire +2 more sources
, 2011 Gaucher disease is a recessively inherited lysosomal storage disorder, caused by deficiency of glucocerebrosidase activity. Affected individuals usually present with hepatosplenomegaly, anaemia, thrombocytopenia, and skeletal diseases.
蔡力凱;簡穎秀;楊智超;胡務亮 +1 more
core +1 more source
Neuroimaging Findings and Risk Factors for Brain Injury in Foetuses Treated for Anaemia
Prenatal Diagnosis, EarlyView.ABSTRACT Objective Characterize neuroimaging findings in foetuses with anaemia and identify associated risk factors. Methods Retrospective cohort study of pregnancies with foetal anaemia (defined as haemoglobin > 2 standard deviations below the gestational age mean) confirmed by foetal blood sampling (FBS) and treated with intrauterine transfusion (IUT)
Laurence Sophie Carmant +6 more
wiley +1 more source
Flow cytometric assay of respiratory burst capacity in peripheral blood monocytes of Gaucher type 1 patients [PDF]
Journal of Medical Biochemistry, 2014 Background: There is an apparently increased tendency toward infections in patients with Gaucher disease, possibly due to defective neutrophil function rather than a decreased neutrophil count. Since macrophages are the main cell type affected in Gaucher
Rodić Predrag +5 more
doaj
Insights into Imaging, 2019 Gaucher disease is an inherited metabolic disorder resulting in deficiency of lysosomal enzyme β-glucocerebrosidase causing the accumulation of abnormal macrophages (“Gaucher cells”) within multiple organs, most conspicuously affecting the liver, spleen,
Andrew J. Degnan +6 more
doaj +1 more source
Lentiviral vectors for gene therapy of Gaucher disease
, 2015 Gaucher disease (GD), a recessive disorder characterised by hepatosplenomegaly, pancytopenia and skeletal complications, is caused by deficiency of the enzyme glucocerebrosidase (GC).
Aitchison, KL
core
Fatal respiratory failure caused by pulmonary infiltration by pseudo-Gaucher cells
, 1992 Pseudo-Gaucher cells are reticuloendothelial cells that are found in several diseases. We report a case of pulmonary tuberculosis in which extensive pulmonary involvement with these cells resulted in fatal respiratory ...
van der Jagt, Eric J +5 more
core +1 more source
, 2011 Gaucher disease, caused by a deficiency of the lysosomal enzyme glucocerebrosidase, leads to prominent glucosylceramide accumulation in lysosomes of tissue macrophages (Gaucher cells).
Maas, Mario +15 more
core +2 more sources
Unsaturated biobased polyesters from bicyclic α‐pinene‐based diols
Polymer International, EarlyView.We present the synthesis of four biosourced unsaturated polyesters made from chiral terpene‐based diols and esters of renewable diacids. The resulting materials harbor a bicyclic pinene ring in their backbones which leads to enhanced thermal properties while still conferring susceptibility to enzyme hydrolysis for chains having a cis alkene.
Ganapathy Ranjani +4 more
wiley +1 more source