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publicationDate 2013-11-26-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber US-8592362-B2
titleOfInvention Method to predict response to pharmacological chaperone treatment of diseases
abstract The present invention provides methods to determine whether a patient with a lysosomal storage disorder will benefit from treatment with a specific pharmacological chaperone. The present invention exemplifies an in vitro method for determining alpha-galactosidase A responsiveness to a pharmacological chaperone such as 1-deoxygalactonojirimycin in a cell line expressing a mutant from of alpha-galactosidase A. The invention also provides a method for diagnosing Fabry disease in patients suspected of having Fabry disease.
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