Elfrida BENJAMIN,Hung V. Do,Xiaoyang Wu,John Flanagan,Brandon Wustman
申请号：
US14731603
公开号：
US20150342940A1
申请日:
2015.06.05
申请国别(地区):
US
年份:
2015
代理人:
摘要：
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.
