Patent classifications
G
PHYSICS
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G01
MEASURING; TESTING
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G01N
INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
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2333/00
Assays involving biological materials from specific organisms or of a specific nature
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G01N2333/924
acting on glycosyl compounds (3.2)
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G01N2333/94
acting on alpha-galactose-glycoside bonds, e.g. alpha-galactosidase
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G01N2333/94

Method to predict response to pharmacological chaperone treatment of diseases
09545397 · 2017-01-17 · ·

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 -galactosidase A responsiveness to a pharmacological chaperone such as 1-deoxygalactonojirimycin in a cell line expressing a mutant from of -galactosidase A. The invention also provides a method for diagnosing Fabry disease in patients suspected of having Fabry disease.

METHOD TO PREDICT RESPONSE TO PHARMACOLOGICAL CHAPERONE TREATMENT OF DISEASES
20170003301 · 2017-01-05 · ·

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 -galactosidase A responsiveness to a pharmacological chaperone such as 1-deoxygalactonojirimycin in a cell line expressing a mutant from of -galactosidase A. The invention also provides a method for diagnosing Fabry disease in patients suspected of having Fabry disease.