Phytanoyl-coenzyme A hydroxylase deficiency -- the enzyme defect in Refsum's disease

N Engl J Med. 1997 Jul 10;337(2):133-4. doi: 10.1056/NEJM199707103370215.
No abstract available

Publication types

  • Letter

MeSH terms

  • Humans
  • Mixed Function Oxygenases / deficiency*
  • Peroxisomal Disorders / enzymology
  • Phytanic Acid / metabolism
  • Refsum Disease / enzymology*
  • Refsum Disease / metabolism

Substances

  • Phytanic Acid
  • Mixed Function Oxygenases
  • PHYH protein, human