Fabry disease and enzyme replacement therapy in classic patients with same mutation: different formulations - different outcome?
Author:
Affiliation:
1. Laboratorio Neuroquímica Dr Chamoles (FESEN); Buenos Aires Argentina
2. Cardiology Department; Del Viso Medical Center; Buenos Aires Argentina
3. Department of Nephrology; Juan Fernandez Hospital; Buenos Aires Argentina
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.12590/fullpdf
Reference18 articles.
1. Fabry disease;Germain;Orphanet J Rare Dis,2010
2. A phase 1/2 clinical trial of enzyme replacement in Fabry disease: pharmacokinetic, substrate clearance, and safety studies;Eng;Am J Hum Genet,2001
3. Recommendations for chamber quantification;Lang;J Am Soc Echocardiogr,2005
4. Enzyme replacement and enhancement therapies: lessons from lysosomal disorders;Desnick;Nat Rev Genet,2002
5. Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in Fabry disease;Lukas;PLoS Genet,2013
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