Defective conversion of 7-dehydrocholesterol to cholesterol in cultured skin fibroblasts from Smith-Lemli-Opitz syndrome homozygotes

This publication has 21 references indexed in Scilit:

• Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome
  The Journal of Pediatrics, 1995
• Prenatal detection of the cholesterol biosynthetic defect in the Smith-Lemli-Opitz syndrome by the analysis of amniotic fluid sterols
  American Journal of Medical Genetics, 1995
• Reproducing abnormal cholesterol biosynthesis as seen in the Smith-Lemli-Opitz syndrome by inhibiting the conversion of 7-dehydrocholesterol to cholesterol in rats.
  Journal of Clinical Investigation, 1995
• Abnormal cholesterol metabolism in the Smith‐Lemli‐Opitz syndrome: Report of clinical and biochemical findings in four patients and treatment in one patient
  American Journal of Medical Genetics, 1994
• RSH/SLO (“Smith‐Lemli‐Opitz”) syndrome: Historical, genetic, and developmental considerations
  American Journal of Medical Genetics, 1994
• Smith-Lemli-Opitz syndrome in a female with a de novo, balanced translocation involving 7q32: Probable Disruption of an SLOS gene
  American Journal of Medical Genetics, 1994
• Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome
  The Lancet, 1993
• The Gardner‐Silengo‐Wachtel or genito‐palato‐cardiac syndrome: Male pseudohermaphroditism with micrognathia, cleft palate, and conotruncal cardiac defect
  American Journal of Medical Genetics, 1987
• Possible abnormalities of steroid secretion in children with Smith-Lemli-Opitz syndrome and their parents
  Steroids, 1985
• A newly recognized syndromeof multiple congenital anomalies
  The Journal of Pediatrics, 1964