Diagnosis of Zellweger syndrome by analysis of bile acids and plasmalogens in stored dried blood collected at neonatal screening

J Pediatr. 1987 Aug;111(2):264-7. doi: 10.1016/s0022-3476(87)80084-7.
No abstract available

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Bile Acids and Salts / blood*
  • Chromosome Aberrations / blood
  • Chromosome Aberrations / diagnosis
  • Chromosome Disorders
  • Hepatorenal Syndrome / complications*
  • Hepatorenal Syndrome / diagnosis
  • Hepatorenal Syndrome / genetics
  • Humans
  • Infant, Newborn
  • Kidney Diseases / complications*
  • Metabolism, Inborn Errors / complications*
  • Metabolism, Inborn Errors / diagnosis
  • Metabolism, Inborn Errors / genetics
  • Microbodies / metabolism*
  • Plasmalogens / blood*
  • Prenatal Diagnosis
  • Skull / abnormalities*
  • Syndrome

Substances

  • Bile Acids and Salts
  • Plasmalogens