PREDICTION OF RESPONSE OF MUTATED α-GALACTOSIDASE A TO A PHARMACOLOGICAL CHAPERONE

OBJECTIVE: To 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). METHODS: T-cells grown from normal individuals or from patients with Fabry disease...

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Detalhes bibliográficos
Main Authors: Shin, Sang H., Kluepfel-Stahl, Stefanie, Cooney, Adele M., Kaneski, Christine R., Quirk, Jane M., Schiffmann, Raphael, Brady, Roscoe O., Murray, Gary J.
Formato: Artigo
Idioma:Inglês
Publicado em: 2008
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2657085/
https://ncbi.nlm.nih.gov/pubmed/18698230
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/FPC.0b013e32830500f4
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