Stephen J. Schueler, M.D.

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Fabry's Disease Underlying Cause

Fabry's disease is an inherited disorder: the body does not make an enzyme that is needed to break down a substance that is produced inside blood vessel cells. The substance accumulates inside the cells and becomes toxic to the cells, damaging the blood vessels.

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Last Updated: Mar 17, 2009 References
Authors: Stephen J. Schueler, MD; John H. Beckett, MD; D. Scott Gettings, MD
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PubMed Fabry's Disease References
  1. Lacomis D, Roeske-Anderson L, Mathie L. Neuropathy and Fabry's disease. Muscle Nerve. 2005 Jan;31(1):102-7. [15389653]
  2. Mignani R, Cagnoli L. Enzyme replacement therapy in Fabry's disease: recent advances and clinical applications. J Nephrol. 2004 May-Jun;17(3):354-63. [15365954]
  3. Pleasure D. New treatments for denervating diseases. J Child Neurol. 2005 Mar;20(3):258-62. [15832625]
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