A pharmacogenetic approach to identify mutant forms of α‐galactosidase a that respond to a pharmacological chaperone for Fabry disease-Reference-Cited by-同舟云学术

A pharmacogenetic approach to identify mutant forms of α‐galactosidase a that respond to a pharmacological chaperone for Fabry disease

Published:2011-07-12 Issue:8 Volume:32 Page:965-977
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Wu Xiaoyang¹,Katz Evan¹,Valle Maria Cecilia Della¹,Mascioli Kirsten¹,Flanagan John J.¹,Castelli Jeffrey P.¹,Schiffmann Raphael²,Boudes Pol¹,Lockhart David J.¹,Valenzano Kenneth J.¹,Benjamin Elfrida R.¹

Affiliation:

1. Amicus Therapeutics, Cranbury, New Jersey

2. Institute of Metabolic Disease, Baylor Research Institute, Dallas, Texas

Funder

Re-use of this article is permitted in accordance with the Terms and Conditions set out at [http://wileyonlinelibrary.com/author resources/onlineopen.html]

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.21530

Reference44 articles.

1. Statistics Notes: Diagnostic tests 2: predictive values

2. Statistics Notes: Diagnostic tests 1: sensitivity and specificity

3. Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study

4. In vitroinhibition and intracellular enhancement of lysosomal α-galactosidase A activity in Fabry lymphoblasts by 1-deoxygalactonojirimycin and its derivatives

5. Fabry Disease in Patients with End-Stage Renal Failure: The Potential Benefits of Screening

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