Interconversion of Human Lysosomal Enzyme Specificities Descriptor: 2-acetamido-2-deoxy-beta-D-glucopyranose, Alpha-galactosidase A, GLYCEROL, ... Authors: Tomasic, I.B, Metcalf, M.C, Guce, A.I, Clark
Abstract Lysosomal storage diseases (LSDs) are inherited conditions caused by impaired lysosomal function and consequent substrate storage, leading to a range of clinical manifestations, including car
Tay-Sachs disease (TSD) is a inherited lysosomal storage disease resulting from mutations in the α-subunits of the lysosomal enzyme, β-hexosaminidase A, and leads to excessive accumulation of GM2 gang
Additional file 2. Single molecule molecular inversion probe sequences of 903 probes along with their target enrichment site coordinates used in the smMIP based assay.
