References in periodicals archive ?
Prenatal detection of the cholesterol biosynthetic defect in the Smith-Lemli-Opitz syndrome by the analysis of amniotic fluid sterols.
Prenatal diagnosis of Smith-Lemli-Opitz syndrome is possible by measurement of 7-dehydrocholesterol in amniotic fluid.
Fetal Smith-Lemli-Opitz syndrome can be detected accurately and reliably by measuring amniotic fluid dehydrocholesterols.
First trimester prenatal diagnosis of Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency).
First-trimester diagnosis of Smith-Lemli-Opitz syndrome.
Defective cholesterol biosynthesis associated with Smith-Lemli-Opitz syndrome.
Identification of 8-dehydrocholesterol (cholesta-5,8-dien-3[beta]-ol) in patients with Smith-Lemli-Opitz syndrome.
Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome.
The clinical and biochemical spectrum of 7-dehydrocholesterolemia: Smith-Lemli-Opitz syndrome and its variants [Abstract].
Sterol concentrations ([micro]mol/L (a)) in plasma from patients with Smith-Lemli-Opitz syndrome and from diseased controls.