| 摘要 |
The present invention discloses compositions, methods, assays and kits which provide for rapid, high-throughput and sensitive assays useful for detecting the activity of galactocerebrosidase (GALC) in a test sample. The methods, assays and kits of the present invention provide useful diagnostic tools which may be used to identify subjects suspected of having an enzyme deficiency and to evaluate the efficacy of enzyme replacement therapy. |
