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The Smith-Lemli-Opitz syndrome (SLOS) is a multiple malformation/mental retardation syndrome caused by a deficiency of the enzyme 7-dehydrocholesterol Δ7-reductase.
Robert D. Steiner +4 more
doaj +1 more source
Polypharmacy, or the simultaneous use of multiple drugs to treat a single patient, is a common practice in psychiatry. Unfortunately, data on the health effects of commonly used combinations of medications are very limited.
Marta Balog +4 more
doaj +1 more source
The Smith-Lemli-Opitz syndrome (SLOS) is a common birth defect–mental retardation syndrome caused by a defect in the enzyme that reduces 7-dehydrocholesterol to cholesterol.
Megumi Honda +5 more
doaj +1 more source
Sterols in blood of normal and Smith-Lemli-Opitz subjects
Smith-Lemli-Opitz syndrome (SLOS) is a hereditary disorder in which a defective gene encoding 7-dehydrocholesterol reductase causes the accumulation of noncholesterol sterols, such as 7- and 8-dehydrocholesterol.
Benfang Ruan +10 more
doaj +1 more source
Evaluation of brain cholesterol metabolism after neonatal hypoxic-ischemic brain injury [PDF]
Introduction Neonatal hypoxic-ischemic brain injury (HIBI), resulting from impaired cerebral blood flow and oxygen delivery to the brain, affects at least 1.5 per 1,000 live births each year in the United States.
Allen, Luke +3 more
core +1 more source
Smith-Lemli-Opitz syndrome (SLOS) is caused by mutations in the gene encoding 3β-hydroxysterol-Δ7-reductase and as a result of this defect, 7-dehydrocholesterol (7-DHC) and 8-dehydrocholesterol (8-DHC) accumulate in the fluids and tissues of patients ...
Wei Liu +7 more
doaj +1 more source
7-dehydrocholesterol (7-DHC) and cholesterol (CHOL) are biomarkers of Smith-Lemli-Opitz Syndrome (SLOS), a congenital autosomal recessive disorder characterized by elevated 7-DHC level in patients.
Yitao Luo +8 more
doaj +1 more source
Cytotoxic furanosesquiterpenoids and steroids from Ircinia mutans sponges [PDF]
CONTEXT: Ircinia mutans Wilson (Irciniidae) is a sponge with antimicrobial and cytotoxic constituents. OBJECTIVE: Our objective was to characterise the cytotoxic constituents of two seasonal collections of I. mutans.
Baldwin, I. +8 more
core +2 more sources
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
doaj +1 more source
Smith–Lemli–Opitz syndrome (SLOS) is an inborn error of cholesterol synthesis resulting from a defect in 7-dehydrocholesterol reductase (DHCR7), the enzyme that produces cholesterol from its immediate precursor 7-dehydrocholesterol.
Lee Ying +5 more
doaj +1 more source

