http://www.raredr.com/news/diagnosing-fabry-disease-in-women
Diagnosing Fabry Disease in Women

Elizabeth Smith




At WORLDSymposium, we talked with Elizabeth Smith of Emory University about her poster presentation involving 3 women suspected of having Fabry disease who underwent further genetic testing to confirm or deny the diagnosis.
 
Fabry disease is a x-linked lysosomal disease. 

Reference

Smith E. Please proceed with caution: a case series of the perils and pitfall of making a Fabry diagnosis. Presented at 13th Annual WORLDSymposium; San Diego CA; February 13-16, 2017.
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