Background Gaucher disease (GD) is a rare, inherited, autosomal recessive disorder
caused by a deficiency of the lysosomal enzyme, acid β-glucosidase. Its diagnosis is …

Gaucher disease (GD) is caused by glucocerebrosidase deficiency leading to the
accumulation of sphingolipids in macrophages named “Gaucher's Cells”. These cells are …

The main concerns in targeted “sphingolipidomics” are the extraction and proper handling of
biological samples to avoid interferences and achieve a quantitative yield well representing …

Central retinal vein occlusion (CRVO) is a frequent retinal disorder inducing blindness due
to the occlusion of the central vein of the retina. The primary cause of the occlusion remains …

Abstract Hydrogen peroxide (H 2 O 2) is an oxidant produced endogenously by several
enzymatic pathways. While it can cause molecular damage, H 2 O 2 also plays a role in …

It is well established that patients with Gaucher disease, as well as carriers of the disease
have an increased risk for developing Parkinson's disease. A plethora of evidence suggests …

Red blood cells (RBCs) are the subject of clinical attention due to their biological
importance. Recently, it has been shown that certain erythrocyte pathologies could be linked …

Advancements with cost-effective, high-throughput omics technologies have had a
transformative effect on both fundamental and translational research in the medical …

Aim: Plasma and serum are widely used blood-derived biofluids for metabolomics and
lipidomics assays, but analytes that are present in high concentrations in blood cells cannot …

Gaucher Disease (GD) is a rare genetic disorder characterized by a deficiency in the
enzyme glucocerebrosidase, leading to the accumulation of glucosylceramide in various …