A new type of chondrodysplasia punctata associated with peroxisomal dysfunction

J Inherit Metab Dis. 1991;14(3):361-3. doi: 10.1007/BF01811703.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Acyltransferases / analysis
  • Catalase / metabolism
  • Chondrodysplasia Punctata / congenital*
  • Chondrodysplasia Punctata / genetics
  • Female
  • Fibroblasts / enzymology
  • Fibroblasts / metabolism
  • Humans
  • Infant
  • Infant, Newborn
  • Microbodies / metabolism*
  • Oxidation-Reduction
  • Phytanic Acid / metabolism
  • Skin / metabolism

Substances

  • Phytanic Acid
  • Catalase
  • Acyltransferases
  • glycerone-phosphate O-acyltransferase