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. |