Results 1 to 10 of about 172 (75)
The Smith-Lemli-Opitz syndrome (SLOS) is a congenital birth defect syndrome caused by a deficiency of 3β-hydroxysterol Δ7-reductase, the final enzyme in the cholesterol biosynthetic pathway.
Akira Honda +9 more
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Occurrence of isomeric dehydrocholesterols in human plasma.
Three isomeric dehydrocholesterols were found in plasma from healthy subjects and patients with abnormal production or metabolism of cholesterol.
M Axelson
doaj +1 more source
The Smith-Lemli-Opitz syndrome is an autosomal recessive birth defect (frequency 1:20,000-1:40,000) that results in profound mental retardation, physical deformities, and failure to thrive.
G S Tint +8 more
doaj +1 more source
Chromatographic methods for the separation of 24- and 25-dehydrocholesterols are described. The purities of three commercial samples of 24-dehydrocholesterol examined by thin-layer and gas-liquid chromatography were only 42, 79, and 80%, respectively; a ...
James A. Svoboda, Malcolm J. Thompson
doaj +1 more source
Phospholipids and sterols are known to have multiple functions in reproductive tissue of mammals. High concentrations of the cholesterol precursor desmosterol have been described in testis, epididymis, and spermatozoa of various species.
Bernhard Lindenthal +6 more
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Objective: To show the importance of measuring cholesterol precursor levels in amniotic fluid in all pregnancies with ultrasound features (such as holoprosencephaly) suggestive of Smith–Lemli–Opitz syndrome (SLOS), after exclusion of chromosomal ...
André Travessa +3 more
doaj +1 more source
Desmosterol and 7-dehydrocholesterol concentrations in post mortem brains of depressed people: The role of trazodone. [PDF]
Cenik B +6 more
europepmc +1 more source
A newly developed and validated LC-MS/MS method for measuring 7-dehydrocholesterol (7DHC) concentration in human skin: a tool for vitamin D photobiology research. [PDF]
Borecka O +4 more
europepmc +1 more source
Influence of Seasonal Vitamin D Changes on Clinical Manifestations of Rheumatoid Arthritis and Systemic Sclerosis. [PDF]
Cutolo M +4 more
europepmc +1 more source
Selective ability of rat 7-Dehydrocholesterol reductase (DHCR7) to act on some 7-Dehydrocholesterol metabolites but not on lumisterol metabolites. [PDF]
Tuckey RC +3 more
europepmc +1 more source

