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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Refsum disease


Other Names for this Disease
  • Disorder of cornification 11 (phytanic acid type)
  • Doc 11 (phytanic acid type)
  • Herditary sensory and motor neuropathy type 4
  • Heredopathia atactica polyneuritiformis
  • HMSN 4
More Names
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Treatment


Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.

Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied Refsum disease. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.