Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone.
2008
ObjectiveTo examine the relationship between types and locations of mutations of the enzyme α-galactosidase (Gal) A in Fabry disease and the response to the pharmacological chaperone 1-deoxygalactonojirimycin (DGJ).MethodsT cells grown from normal individuals or from patients with Fabry disease were
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