Diagnosis of Zellweger syndrome by analysis of bile acids and plasmalogens in stored dried blood collected at neonatal screening.
D001647:Bile Acids and Salts / Q000097:blood*; D002869:Chromosome Aberrations / Q000097:blood / Q000175:diagnosis; D025063:Chromosome Disorders; D006530:Hepatorenal Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007674:Kidney Diseases / Q000150:complications*; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D008830:Microbodies / Q000378:metabolism*; D010955:Plasmalogens / Q000097:blood*; D011296:Prenatal Diagnosis; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome
D001647:Bile Acids and Salts; D010955:Plasmalogens