More on Zellweger's syndrome, infantile Refsum's disease, and rhizomelic chondrodysplasia punctata

N Engl J Med. 1986 Sep 18;315(12):766-7. doi: 10.1056/NEJM198609183151218.
No abstract available

Publication types

  • Letter

MeSH terms

  • Acyltransferases / deficiency
  • Brain / abnormalities
  • Chondrodysplasia Punctata / genetics*
  • Female
  • Genetic Complementation Test
  • Humans
  • Infant
  • Kidney / abnormalities
  • Liver / abnormalities
  • Male
  • Microbodies / enzymology
  • Refsum Disease / genetics*
  • Syndrome

Substances

  • Acyltransferases
  • glycerone-phosphate O-acyltransferase