http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-2015342940-A1

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filingDate 2015-06-05-04:00^^<http://www.w3.org/2001/XMLSchema#date>
inventor http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_165ce7df90c5f0bc2f79bce77c9a77dd
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publicationDate 2015-12-03-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber US-2015342940-A1
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 α-galactosidase A responsiveness to a pharmacological chaperone such as 1-deoxygalactonojirimycin in a cell line expressing a mutant from of α-galactosidase A. The invention also provides a method for diagnosing Fabry disease in patients suspected of having Fabry disease.
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