Peroxisomal 3-ketoacyl-CoA thiolase is partially processed in fibroblasts from patients with rhizomelic chondrodysplasia punctata

J Inherit Metab Dis. 1993;16(5):868-71. doi: 10.1007/BF00714280.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acetyl-CoA C-Acyltransferase / metabolism*
  • Acyltransferases / deficiency
  • Cells, Cultured
  • Chondrodysplasia Punctata / enzymology*
  • Female
  • Fibroblasts / enzymology
  • Humans
  • Infant
  • Microbodies / enzymology*

Substances

  • Acyltransferases
  • Acetyl-CoA C-Acyltransferase
  • glycerone-phosphate O-acyltransferase