Rhizomelic chondrodysplasia punctata--a new clinical variant

J Inherit Metab Dis. 1992;15(6):931-2. doi: 10.1007/BF01800236.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Acyltransferases / blood
  • Acyltransferases / deficiency
  • Blood Platelets / enzymology
  • Calcinosis / pathology
  • Chondrodysplasia Punctata / diet therapy
  • Chondrodysplasia Punctata / pathology*
  • Erythrocytes / metabolism
  • Female
  • Fibroblasts / enzymology
  • Humans
  • Infant, Newborn
  • Limb Deformities, Congenital
  • Phytanic Acid / blood
  • Plasmalogens / blood

Substances

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