Compounds > cholesta-5,8-dien-3 beta-ol
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cholesta-5,8-dien-3 beta-ol and 7-Dehydrocholesterol Reductase Deficiency

cholesta-5,8-dien-3 beta-ol has been researched along with 7-Dehydrocholesterol Reductase Deficiency in 22 studies

Research

Studies (22)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's7 (31.82)18.2507
2000's10 (45.45)29.6817
2010's5 (22.73)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Dias, P; Rocha, P; Sousa, AB; Travessa, A1
Beblo, S; Becker, S; Ceglarek, U; Empting, S; Haas, D; Husain, RA; Mohnike, K; Mütze, U; Röhnike, S; Thiery, J1
Anna, S; Goryluk-Kozakiewicz, B; Jezela-Stanek, A; Krajewska-Walasek, M; Kucharczyk, M; Małunowicz, E; Sodowska, H1
Abdel-Khalik, J; Bigger, BW; Björkhem, I; Clayton, PT; Crick, PJ; Griffiths, WJ; Honda, A; Kwok, MK; Morris, AA; Ogundare, M; Porter, NA; Shackleton, CH; Tuschl, K; Wang, Y; Xu, L1
Corso, G; D'Apolito, O; Dello Russo, A; Gelzo, M; Paglia, G1
Björkhem, I; Lövgren-Sandblom, A; Starck, L1
Cui, J; Javitt, NB; Porter, FD; Wassif, CA; Yu, J1
Beemer, FA; de Barse, MM; Dorland, L; Duran, M; Langius, FA; Oostheim, W; Poll-The, BT; Romeijn, GJ; Wanders, RJ; Waterham, HR1
Connor, WE; Flavell, DP; Lin, DS; Linck, LM; Merkens, LS; Steiner, RD1
Chevy, F; Humbert, L; Wolf, C1
Armbrust, S; Fusch, C; Haas, D; Haas, JP; Mühlmann, K; Neumann, LM; Zschocke, J1
Batta, AK; Salen, G; Shefer, S; Tint, GS1
Chevy, F; Citadelle, D; Kolf-Clauw, M; Mulliez, N; Pham, J; Roux, C; Wolf, C1
de Jong, JG; Janssen-Zijlstra, FS; Jira, PE; Wendel, U; Wevers, RA1
Batta, AK; Elias, ER; Honda, A; Irons, M; Salen, G; Shefer, S; Tint, GS; Xu, G1
Nijenhuis, AA; Schutgens, RB; van Rooij, A; Wijburg, FA1
Abuelo, D; Batta, AK; Cordier, MP; Elias, ER; Honda, A; Honda, M; Irons, M; Salen, G; Shefer, S; Till, M; Tint, GS; Xu, G1
Batta, AK; Honda, A; Honda, M; Matsuzaki, Y; Salen, G; Shefer, S; Shoda, J; Tanaka, N; Tint, GS; Xu, G1
Pang, J; Ruan, B; Schroepfer, GJ; Wilson, WK1
Lövgren, A; Starck, L1
de Jong, J; Janssen-Zijlstra, FS; Jira, PE; Rubio-Gozalbo, E; Sengers, RC; Smeitink, JA; van Heyst, AF; Wevers, RA1
Andersson, U; Babiker, A; Björkhem, I; Diczfalusy, U; Lütjohann, D; Pikuleva, I; Starck, L; von Bahr, S1

Reviews

1 review(s) available for cholesta-5,8-dien-3 beta-ol and 7-Dehydrocholesterol Reductase Deficiency

ArticleYear
The Smith-Lemli-Opitz syndrome: a potentially fatal birth defect caused by a block in the last enzymatic step in cholesterol biosynthesis.
    Sub-cellular biochemistry, 1997, Volume: 28

    Topics: Animals; Cholestadienols; Cholesterol; Dehydrocholesterols; Disease Models, Animal; Enzyme Inhibitors; Humans; Liver; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Piperazines; Smith-Lemli-Opitz Syndrome

1997

Trials

1 trial(s) available for cholesta-5,8-dien-3 beta-ol and 7-Dehydrocholesterol Reductase Deficiency

ArticleYear
Highly increased CSF concentrations of cholesterol precursors in Smith-Lemli-Opitz syndrome.
    Journal of inherited metabolic disease, 1997, Volume: 20, Issue:4

    Topics: Cholestadienols; Cholesterol; Chromatography, Gas; Dehydrocholesterols; Female; Humans; Infant; Infant, Newborn; Male; Smith-Lemli-Opitz Syndrome

1997

Other Studies

20 other study(ies) available for cholesta-5,8-dien-3 beta-ol and 7-Dehydrocholesterol Reductase Deficiency

ArticleYear
Prenatal diagnosis of holoprosencephaly associated with Smith-Lemli-Opitz syndrome (SLOS) in a 46,XX fetus.
    Taiwanese journal of obstetrics & gynecology, 2017, Volume: 56, Issue:4

    Topics: Adult; Amniotic Fluid; Cholestadienols; Chorionic Villi Sampling; Dehydrocholesterols; Diagnosis, Differential; Female; Holoprosencephaly; Homozygote; Humans; Karyotype; Mutation; Pregnancy; Prenatal Diagnosis; Smith-Lemli-Opitz Syndrome

2017
LC-MS/MS-based quantification of cholesterol and related metabolites in dried blood for the screening of inborn errors of sterol metabolism.
    Analytical and bioanalytical chemistry, 2015, Volume: 407, Issue:17

    Topics: Cholestadienols; Cholesterol; Chromatography, Liquid; Dehydrocholesterols; Dried Blood Spot Testing; Gas Chromatography-Mass Spectrometry; Humans; Infant, Newborn; Limit of Detection; Smith-Lemli-Opitz Syndrome; Tandem Mass Spectrometry

2015
Trends in prenatal diagnosis of non-specific multiple malformations disorders with reference to the own experience and research study on Smith-Lemli-Opitz syndrome.
    Ginekologia polska, 2015, Volume: 86, Issue:8

    Topics: Amniotic Fluid; Cholestadienols; Female; Gas Chromatography-Mass Spectrometry; Humans; Oxidoreductases Acting on CH-CH Group Donors; Pregnancy; Prenatal Diagnosis; Smith-Lemli-Opitz Syndrome

2015
Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients.
    The Journal of steroid biochemistry and molecular biology, 2017, Volume: 169

    Topics: Cholestadienols; Dehydrocholesterols; Free Radicals; Humans; Mutation; Oxidoreductases Acting on CH-CH Group Donors; Oxysterols; Plasma; Smith-Lemli-Opitz Syndrome; Sterols

2017
Direct analysis of sterols from dried plasma/blood spots by an atmospheric pressure thermal desorption chemical ionization mass spectrometry (APTDCI-MS) method for a rapid screening of Smith-Lemli-Opitz syndrome.
    The Analyst, 2010, Volume: 135, Issue:4

    Topics: Cholestadienols; Dehydrocholesterols; Humans; Smith-Lemli-Opitz Syndrome; Spectrometry, Mass, Electrospray Ionization; Sterols

2010
Simvastatin treatment in the SLO syndrome: a safe approach?
    American journal of medical genetics, 2002, Nov-22, Volume: 113, Issue:2

    Topics: Adolescent; Alanine Transaminase; Cholestadienols; Dehydrocholesterols; Female; Humans; Hydroxymethylglutaryl-CoA Reductase Inhibitors; Photosensitivity Disorders; Simvastatin; Smith-Lemli-Opitz Syndrome; Time Factors; Treatment Outcome

2002
27-Hydroxylation of 7- and 8-dehydrocholesterol in Smith-Lemli-Opitz syndrome: a novel metabolic pathway.
    Steroids, 2003, Volume: 68, Issue:6

    Topics: Adult; Case-Control Studies; Child; Child, Preschool; Cholestadienols; Cholesterol; Dehydrocholesterols; DNA-Binding Proteins; Humans; Hydroxycholesterols; Hydroxylation; Infant; Liver X Receptors; Orphan Nuclear Receptors; Receptors, Cytoplasmic and Nuclear; Smith-Lemli-Opitz Syndrome

2003
Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome.
    American journal of medical genetics. Part A, 2003, Sep-15, Volume: 122A, Issue:1

    Topics: Adolescent; Child; Cholestadienols; Cholesterol; Dehydrocholesterols; DNA Mutational Analysis; Female; Humans; Infant; Male; Oxidoreductases Acting on CH-CH Group Donors; Smith-Lemli-Opitz Syndrome

2003
Effects of dietary cholesterol on plasma lipoproteins in Smith-Lemli-Opitz syndrome.
    Pediatric research, 2004, Volume: 56, Issue:5

    Topics: Apolipoproteins E; Child; Child, Preschool; Cholestadienols; Cholesterol, Dietary; Cholesterol, HDL; Cholesterol, LDL; Dehydrocholesterols; Egg Yolk; Female; Genotype; Humans; Infant; Infant, Newborn; Male; Smith-Lemli-Opitz Syndrome

2004
Sterol profiling of amniotic fluid: a routine method for the detection of distal cholesterol synthesis deficit.
    Prenatal diagnosis, 2005, Volume: 25, Issue:11

    Topics: Amniotic Fluid; Animals; Biomarkers; Cholestadienols; Cholesterol; Dehydrocholesterols; Gas Chromatography-Mass Spectrometry; Gestational Age; Humans; Prenatal Diagnosis; Rats; Retrospective Studies; Smith-Lemli-Opitz Syndrome; Sterols

2005
Smith-Lemli-Opitz syndrome with a classical phenotype, oesophageal achalasia and borderline plasma sterol concentrations.
    Journal of inherited metabolic disease, 2005, Volume: 28, Issue:6

    Topics: Cell Culture Techniques; Cholestadienols; Cholesterol; Culture Media; Dehydrocholesterols; DNA Mutational Analysis; Esophageal Achalasia; Female; Fibroblasts; Gas Chromatography-Mass Spectrometry; Heterozygote; Humans; Infant; Lipids; Mutation; Oxidoreductases Acting on CH-CH Group Donors; Phenotype; Smith-Lemli-Opitz Syndrome; Sterols

2005
Identification of 19-nor-5,7,9(10)-cholestatrien-3 beta-ol in patients with Smith-Lemli-Opitz syndrome.
    Journal of lipid research, 1995, Volume: 36, Issue:11

    Topics: Cholestadienols; Cholestenes; Cholesterol; Dehydrocholesterols; Humans; Mass Spectrometry; Molecular Structure; Smith-Lemli-Opitz Syndrome

1995
Changes in serum sterols of rats treated with 7-dehydrocholesterol-delta 7-reductase inhibitors: comparison to levels in humans with Smith-Lemli-Opitz syndrome.
    Journal of lipid research, 1996, Volume: 37, Issue:6

    Topics: Animals; Child; Cholestadienols; Cholesterol; Dehydrocholesterols; Disease Models, Animal; Enzyme Inhibitors; Female; Heterozygote; Humans; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Piperazines; Pregnancy; Prenatal Exposure Delayed Effects; Rats; Rats, Wistar; Smith-Lemli-Opitz Syndrome; Sterols; trans-1,4-Bis(2-chlorobenzaminomethyl)cyclohexane Dihydrochloride

1996
Pitfalls in measuring plasma cholesterol in the Smith-Lemli-Opitz syndrome.
    Clinical chemistry, 1997, Volume: 43, Issue:1

    Topics: Adult; Child; Cholestadienols; Cholesterol; Cholesterol Oxidase; Chromatography, Gas; Dehydrocholesterols; False Positive Reactions; Humans; Infant; Infant, Newborn; Reference Values; Smith-Lemli-Opitz Syndrome

1997
Fetal Smith-Lemli-Opitz syndrome can be detected accurately and reliably by measuring amniotic fluid dehydrocholesterols.
    Prenatal diagnosis, 1998, Volume: 18, Issue:7

    Topics: Adult; Amniocentesis; Amniotic Fluid; Cholestadienols; Cholesterol; Dehydrocholesterols; Female; Gas Chromatography-Mass Spectrometry; Gestational Age; Humans; Pregnancy; Pregnancy Outcome; Reference Values; Smith-Lemli-Opitz Syndrome

1998
Bile acid synthesis in the Smith-Lemli-Opitz syndrome: effects of dehydrocholesterols on cholesterol 7alpha-hydroxylase and 27-hydroxylase activities in rat liver.
    Journal of lipid research, 1999, Volume: 40, Issue:8

    Topics: Animals; Anticholesteremic Agents; Bile Acids and Salts; Cholestadienols; Cholestanetriol 26-Monooxygenase; Cholesterol 7-alpha-Hydroxylase; Cytochrome P-450 Enzyme System; Dehydrocholesterols; Female; Humans; Infant; Infant, Newborn; Liver; Male; Microsomes, Liver; Mitochondria, Liver; Models, Biological; Models, Chemical; Piperazines; Rats; Rats, Sprague-Dawley; Smith-Lemli-Opitz Syndrome; Steroid Hydroxylases

1999
Synthesis of [3alpha-3H]cholesta-5,8-dien-3beta-ol and tritium-labeled forms of other sterols of potential importance in the Smith-Lemli-Optiz syndrome.
    Steroids, 2000, Volume: 65, Issue:1

    Topics: Cholestadienols; Chromatography, Gas; Chromatography, High Pressure Liquid; Humans; Magnetic Resonance Spectroscopy; Molecular Structure; Radiochemistry; Smith-Lemli-Opitz Syndrome; Spectrophotometry, Ultraviolet; Sterols; Tritium

2000
Diagnosis of Smith-Lemli-Opitz syndrome from stored filter paper blood specimens.
    Archives of disease in childhood, 2000, Volume: 82, Issue:6

    Topics: Biomarkers; Blood Specimen Collection; Child; Child, Preschool; Cholestadienols; Filtration; Gas Chromatography-Mass Spectrometry; Humans; Neonatal Screening; Smith-Lemli-Opitz Syndrome; Time Factors

2000
Simvastatin. A new therapeutic approach for Smith-Lemli-Opitz syndrome.
    Journal of lipid research, 2000, Volume: 41, Issue:8

    Topics: Cholestadienols; Cholesterol; Dehydrocholesterols; Erythrocyte Membrane; Exchange Transfusion, Whole Blood; Female; Humans; Hydroxymethylglutaryl-CoA Reductase Inhibitors; Infant; Simvastatin; Smith-Lemli-Opitz Syndrome

2000
Oxysterols in the circulation of patients with the Smith-Lemli-Opitz syndrome: abnormal levels of 24S- and 27-hydroxycholesterol.
    Journal of lipid research, 2001, Volume: 42, Issue:3

    Topics: Adolescent; Animals; Cell Line; Child; Child, Preschool; Cholestadienols; Cholestanetriol 26-Monooxygenase; Cholesterol 24-Hydroxylase; COS Cells; Cytochrome P-450 Enzyme System; Dehydrocholesterols; Gene Expression; Humans; Hydroxycholesterols; Infant; Recombinant Proteins; Smith-Lemli-Opitz Syndrome; Steroid Hydroxylases; Substrate Specificity; Transfection

2001