Gaucher's disease (GD) is the most common lysosomal storage disorder caused by mutations in the GBA1 gene, resulting in deficiency of the enzyme β-glucocerebrosidase. This leads to the accumulation of glucosylceramide within macrophages, causing progressive involvement of the liver, spleen, bone marrow, and, in severe...
K. Deepthi, S. Bhargavi, G. Rani et al.· Genetics and Molecular Resea...· 0 citations