Diagnosis of Fabry Disease via Analysis of Family History
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Link
http://www.springerlink.com/index/pdf/10.1007/s10897-007-9128-x
Reference17 articles.
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2. Brady, R. O., Murray, G. J., Moore, D. F., & Schiffmann, R. (2001). Enzyme replacement therapy in Fabry disease. Journal of Inherited Metabolic Disease 18–24.
3. Deegan, P., Baehner, A. F., Barba-Romero, M. A., Hughes, D., Kampmann, C., & Beck, M. (2006). Natural history of Fabry disease in females in the Fabry Outcome Survey. Journal of Medical Genetics, 43, 347–352.
4. Desnick, R. J., & Astrin, K. A. (2004). Fabry Disease. GeneReviews www.genetests.org .
5. Desnick, R. J., Brady, R., Barranger, J., Collins, A. J., Germain, D. P., & Goldman, M., et al. (2003). Fabry disease, an under-recognized multisystemic disorder: Expert recommendations for diagnosis, management, and enzyme replacement therapy. Annals of Internal Medicine, 138, 338–346.
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