Provided are in vitro and in vivo methods for determining whether a patient with Fabry disease will respond to treatment with a specific pharmacological chaperone.

Provided are in vitro and in vivo methods for determining whether a patient with Fabry disease will respond to treatment with a specific pharmacological chaperone.

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.

Provided are in vitro and in vivo methods for determining whether a patient with Fabry disease will respond to treatment with a specific pharmacological chaperone.

Disclosed is an analyzing method, for analyzing a blood specimen, which includes: mixing a blood specimen and a thrombin-containing reagent to coagulate the blood specimen, and obtaining a coagulation waveform; obtaining a value of a parameter concerning differentiation of the coagulation waveform, based on the coagulation waveform; and obtaining information concerning an amount of antigen of fibrinogen based on the obtained value of the parameter.

Provided are in vitro and in vivo methods for determining whether a patient with Fabry disease will respond to treatment with a specific pharmacological chaperone.

Provided are in vitro and in vivo methods for determining whether a patient with Fabry disease will respond to treatment with a specific pharmacological chaperone.

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.

Processes are provided that include additive compounds suitable for detecting the activity of an enzyme such as a lysosomal storage enzyme where the additive is a salt of oleic acid. Inclusion of a salt of oleic acid unexpectedly improves enzyme activity and reproducibility.

Provided are in vitro and in vivo methods for determining whether a patient with Fabry disease will respond to treatment with a specific pharmacological chaperone.