Results 51 to 60 of about 7,464,333 (166)
Pediatric Neurology Briefs, 1998 Two sibs, a male aged 3 years and female aged 7 months, with a variant of Smith-Lemli-Opitz (SLO) syndrome and atypical sterol metabolism are reported from the Kennedy Krieger Institute, Johns Hopkins University, Baltimore, MD.
J Gordon Millichap
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, 2023 Steroidival substances are an integral part of the human organism, such as bile acids, steroid hormones, vitamins. The most important sterol in whole organism is cholesterol, which is cornerstone of the all cell membranes.
Benešová, Lenka
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Regulation of 7-Dehydrocholesterol Reductase by Vitamin D3 [PDF]
, 2013 7-Dehydrocholesterol (7-DHC) is the substrate of 7-dehydrocholesterol reductase (DHCR7) in the cholesterol synthesis pathway. Keratinocytes in human skin possess the enzymes necessary for cholesterol synthesis but are also responsible for vitamin D3 ...
Zou, Ling
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Occurrence of isomeric dehydrocholesterols in human plasma.
Journal of Lipid Research, 1991 Three isomeric dehydrocholesterols were found in plasma from healthy subjects and patients with abnormal production or metabolism of cholesterol.
M Axelson
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Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome
, 2000 In recent years, several inherited human disorders caused by defects in cholesterol biosynthesis have been identified. These are characterized by malformations, multiple congenital anomalies, mental and growth retardation and/or skeletal and skin ...
Waterham, H. R., Wanders, R. J.
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Journal of Lipid Research, 2013 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
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Journal of Lipid Research, 2001 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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DHCEO accumulation is a critical mediator of pathophysiology in a Smith–Lemli–Opitz syndrome model
Neurobiology of Disease, 2012 Smith–Lemli–Opitz syndrome (SLOS) is an inborn error of metabolism caused by defective cholesterol biosynthesis. Mutations within the gene encoding 7-dehydrocholesterol reductase (DHCR7), the last enzyme in the pathway, lead to the accumulation of 7 ...
Libin Xu +6 more
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Smith Lemli Opitz syndrome: a case report
Khyber Medical University Journal, 2015 INTRODUCTION; Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive genetic condition caused by deficiency of the enzyme 7-dehydrocholesterol-delta 7-reductase.
saima ali, Saffiullah Khalil, Liaqat Ali
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Journal of Lipid Research, 1996 A new sensitive and specific method for the evaluation of 3 beta-hydroxysteroid delta 7-reductase activity, the defective enzyme in the Smith-Lemli-Opitz (SLO) syndrome, is described.
M Honda +6 more
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