Rapid identification of smith-lemlip-opitz syndrome homozygotes and heterozygotes (carriers) by measurement of deficient 7-dehydrocholesterol-Δ7-reductase activity in fibroblasts

This publication has 18 references indexed in Scilit:

• Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes.
  Journal of Clinical Investigation, 1995
• Detection of defective 3β‐hydroxysterol Δ⁷‐reductase activity in cultured human fibroblasts: a method for the diagnosis of Smith‐Lemli‐Opitz syndrome
  Journal of Inherited Metabolic Disease, 1995
• Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts
  Clinica Chimica Acta; International Journal of Clinical Chemistry, 1995
• Defective Cholesterol Biosynthesis Associated with the Smith-Lemli-Opitz Syndrome
  New England Journal of Medicine, 1994
• Different feedback regulation of hepatic cholesterol and bile acid synthesis by glycodeoxycholic acid in rabbits
  Gastroenterology, 1993
• Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome
  The Lancet, 1993
• Cholesterol-mediated regulation of HMG-CoA reductase in microsomes from human skin fibroblasts and rat liver
  Biochemistry and Cell Biology, 1990
• Regulation of the mevalonate pathway
  Nature, 1990
• [19] Receptor-mediated endocytosis of low-density lipoprotein in cultured cells
  Published by Elsevier ,1983
• THE DISTRIBUTION AND CHEMICAL COMPOSITION OF ULTRACENTRIFUGALLY SEPARATED LIPOPROTEINS IN HUMAN SERUM
  Journal of Clinical Investigation, 1955