Introduction: Gaucher disease is the first lysosomal disease to benefit from enzyme
replacement therapy, thus serving as model for numerous other lysosomal diseases …

The industrial demand for enzymes is constantly increasing, with the global enzyme market
dominated by the food and pharmaceutical industries. However, the use of enzymes is still …

Lysosomal storage disorders (LSDs) are a group of rare and genetic diseases produced by
mutations in genes coding for proteins involved in lysosome functioning. Protein defect …

Gaucher disease (GD) is a lysosomal storage disorder that occurs due to an inherited inborn
error of metabolism. GD manifested due to the deficient activity of the glucocerebrosidase …

Background Gaucher disease is an autosomal recessive disorder resulting from the
accumulation of glucocerebroside in the cells of the macrophage-monocyte system caused …

Gaucher Disease arises due to a deficiency in the enzyme glucocerebrosidase and is the
most common lysosomal storage disease. This enzyme deficiency leads to the accumulation …

Background. Gaucher disease is a genetic metabolic disorder, associated with significant
decrease in betaglucocerebrosidase activity. Because of the large number of procedures …

Abstract Fine Needle Aspiration (FNA) is a simple, inexpensive and innocuous diagnostic
tool. It is increasingly accepted in daily medical practice. We report a case of Gaucher's …

Background Gaucher disease (GD) is an autosomal recessive hereditary disease. The
etiology, pathophysiology, diagnosis, and prognosis of GD in children might all be affected …

To assess the role of γ-Glutamyltransferase (GGT) and alkaline phosphatase (ALP) in the
diagnosis of Gaucher disease (GD) and monitoring the response of liver and bone to the …