Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies

Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies

<p>Abstract</p> <p>Background</p> <p>Fabry disease (FD) is a genetic disorder resulting from deficiency of the lysosomal enzyme α-galactosidase A (α-Gal A), which leads to globotriaosylceramide (GL-3) accumulation in multiple tissues. We report on the safety and pharmac...

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Bibliographic Details
Main Authors: Germain Dominique P, Giugliani Roberto, Hughes Derralynn A, Mehta Atul, Nicholls Kathy, Barisoni Laura, Jennette Charles J, Bragat Alexander, Castelli Jeff, Sitaraman Sheela, Lockhart David J, Boudes Pol F
Format: Article
Language:English
Published: BMC 2012-11-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Pharmacological chaperone
Conformational diseases
Protein-misfolding
Fabry disease
Lysosomal storage disorder
Online Access:http://www.ojrd.com/content/7/1/91

Internet

http://www.ojrd.com/content/7/1/91

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