The challenges in the diagnosis, prognosis, and monitoring of Gaucher disease (GD), an
autosomal recessive inborn error of glycosphingolipid metabolism, can negatively impact …

In recent years, high-throughput lipid profiling has contributed to understand the biological,
physiological and pathological roles of lipids in living organisms. Across all kingdoms of life …

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 …

S1P (Sphingosine-1-phosphate) is an important regulator of immune cell trafficking and
vascular dysfunction contributing to the development and progression of overt hypertension …

Background In patients suspected of a lipid storage disorder (sphingolipidoses, lipidoses),
confirmation of the diagnosis relies predominantly on the measurement of specific enzymatic …

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 …

Gaucher disease (GD) is an inherited disorder in which mutations in the GBA1 gene lead to
deficient β-glucocerebrosidase activity and accumulation of its substrate glucosylceramide …

Objectives Sphingolipids have been demonstrated to be involved in many human diseases.
However, measurement of sphingolipids, especially of sphingosine 1-phosphate (S1P) and …

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 …