Current Enzyme Replacement Therapy for the Treatment of Lysosomal Storage Diseases

Abstract excerpt

Lysosomal storage diseases (LSDs) are a group of more than 40 different inherited metabolic diseases, which arise from a gene defect or mutation that impairs proper functioning of a particular lysosomal enzyme or its transport protein. Clinical presentation is very variable among the diverse group of LSDs. A defect in one lysosomal enzyme can have a greater affect on one particular tissue, for example, skeletal...