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Finding Fabry

Finding Fabry

Published By Amicus Therapeutics , 10 months ago

Fabry disease is an x-linked inherited lysosomal storage disorder that results from the buildup of globotriaosylceramide and globotriaoslysphingosine, in the body's cells. Beginning in childhood, this buildup causes signs and symptoms that can affect multiple organs of the body. Fabry disease also involves potentially life-threatening complications such as progressive kidney damage, heart attack and stroke. Some affected individuals have milder forms of the disorder that appear later in life and affect only the heart or kidneys.

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References:

  1. Germain DP. Fabry disease. Orphanet J Rare Dis.20 5:30
  2. https://ghr.nlm.nih.gov/condition/fabry-disease.

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