222 top medical experts on Cerebrotendinous Xanthomatosis across 30 countries and 14 U.S. states, including 64 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Cerebrotendinous Xanthomatosis: An autosomal recessive lipid storage disorder due to mutation of the gene CYP27A1 encoding a cholestanetriol 26-monooxygenase. It is characterized by large deposits of cholesterol and cholestanol in various tissues resulting in xanthomatous swelling of tendons, early cataract, and progressive neurological symptoms.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Broader Categories (#Experts): Xanthomatosis (3,057), Inborn Errors Lipid Metabolism (797).
  4. Clinical Trials ClinicalTrials.gov : at least 9 including 2 Recruiting
  5. Synonyms: Van Bogaert-Scherer-Epstein Disease


  

        

                    


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