REAGENTS AND METHODS FOR SCREENING MPS I, II, IIIA, IIIB, IVA, VI, AND VII

摘要

Reagents, methods, and kits for assaying enzymes associated with lysosomal storage diseases MPS-I, MPS-II, MPS-IIIA, MPS-IIIB, MPS-IV A, MPS-VI, and MPS VII. In one aspect, the invention provides methods for assaying one or more enzymes associated with a lysosomal storage disease. In a first embodiment, the method includes: (a) contacting a sample with a first solution to provide a solution comprising one or more lysosomal enzymes; (b) contacting the one or more lysosomal enzymes in solution with an enzyme substrate for each lysosomal enzyme to be analyzed and incubating the substrates with the enzymes for a time sufficient to provide a solution comprising an enzyme product for each lysosomal enzyme present in the sample.