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Article

Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones.

Orphanet journal of rare diseases - 24 Jul 2013

Cammisa Marco, Correra Antonella, Andreotti Giuseppina, Cubellis Maria Vittoria

Abstract excerpt

Fabry_CEP is a user-friendly web-application designed to help clinicians Choose Eligible Patients for the therapy with pharmacological chaperones. It provides a database and a predictive tool to evaluate the responsiveness of lysosomal alpha-galactosidase mutants to a small molecule drug, namely 1-Deoxy-galactonojirimycin. The user can introduce any missense/nonsense mutation in the coding sequence, learn whether...

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Source

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Identifiers

PMID: 23883437
DOI: 10.1186/1750-1172-8-111
PMCID: PMC3729670

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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