This section of the website may only be accessed by registered members of the National Fabry Disease Foundation (NFDF). 

The NFDF obtained licenses to various peer-reviewed medical publications for its members. In our agreement with the publication providers, the NFDF is required to make the publications accessible to members only rather than the general public.

 

Register now  to gain access to these publications and to be eligible for other NFDF member programs.

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You may be surprised to learn that according to PubMed , a service of the U.S. National Library of Medicine and the National Institutes of Health , there have been over 2600 peer-reviewed medical articles and papers written about various aspects of Fabry disease since 1947. About half of those were written since April 2003 when enzyme replacement therapy was approved.  

The U.S. physician/researcher who has written the most about Fabry disease is Dr. Robert Desnick from the Mount Sinai School of Medicine in New York City. Dr. Desnick has written or contributed to over 100 journal articles about Fabry disease.
 
Thank you to Dr. Desnick for a lifetime of work studying, reporting about, and treating individuals with Fabry disease.