141 top medical experts on Refsum Disease across 13 countries and 4 U.S. states, including 12 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Refsum Disease: An autosomal recessive familial disorder that usually presents in childhood with polyneuropathy; sensorineural hearing loss; ichthyosis; ataxia; retinitis pigmentosa; and cardiomyopathies. (From Joynt, Clinical Neurology, 1991, Ch37, p58-9; Rev Med Interne 1996;17(5):391-8) This condition can be caused by mutation in the genes encoding peroxisomal phytanoyl-CoA hydroxylase or proteins associated peroxisomal membrane, leading to impaired catabolism of phytanic acid in peroxisomes.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Broader Categories (#Experts): Hereditary Sensory and Motor Neuropathy (1,703), Inborn Metabolic Brain Diseases (1,358), Peroxisomal Disorders (437).
  4. Clinical Trials ClinicalTrials.gov : at least 7 including 1 Completed, 4 Recruiting
  5. Synonyms: HMSN Type IV,  Heredopathia Atactica Polyneuritiformis,  Type IV Hereditary Motor and Sensory Neuropathy,  Phytanic Acid Storage Disease


  

        

                    


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