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publicationDate 2019-04-17-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber EP-3470077-A1
titleOfInvention Method to predict response to pharmacological chaperone treatment of diseases
abstract A method of compiling a treatment reference table that indicates the responsiveness of one or more specific mutations of α-Gal A to a specific pharmacological chaperone, the method comprising: analysing in vitro the response to the specific pharmacological chaperone in a host cell that has been transformed with a nucleic acid vector that encodes a first mutant α-Gal A and compiling a table listing responsive and non-responsive mutant forms of α-Gal A. The specific pharmacological chaperone is 1-deoxygalactonojirimycin or a pharmaceutically salt or ester and the first cell is HEK-293 MSR cell.
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