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Article

Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone.

Pharmacogenetics and genomics - 1 Sept 2008

Shin Sang H, Kluepfel-Stahl Stefanie, Cooney Adele M, Kaneski Christine R, Quirk Jane M, Schiffmann Raphael, Brady Roscoe O, Murray Gary J

Abstract excerpt

OBJECTIVE: To examine the relationship between types and locations of mutations of the enzyme alpha-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 were tested for response to treatment with DGJ by increased activity of alpha-Gal A. RESULTS: Cells from normal...

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Identifiers

PMID: 18698230
DOI: 10.1097/FPC.0b013e32830500f4
PMCID: PMC2657085

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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