mevalonic acid and Smith-Lemli-Opitz Syndrome

mevalonic acid has been researched along with Smith-Lemli-Opitz Syndrome in 8 studies

Research

Studies (8)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's1 (12.50)18.2507
2000's4 (50.00)29.6817
2010's3 (37.50)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Freeman, KA; Olufs, E; Roullet, JB; Steiner, RD; Tudor, M1
Backlund, PS; Jiang, XS; Porter, FD; Wassif, CA; Yergey, AL1
Connor, WE; Jacobs, MD; Merkens, LS; Pappu, AS; Roullet, JB; Steiner, RD; Winter, R1
Connor, SL; Connor, WE; Flavell, DP; Hatcher, L; Illingworth, DR; Lin, DS; Pappu, AS; Steiner, RD1
Connor, WE; Illingworth, DR; Jordan, JM; Merkens, LS; Pappu, AS; Penfield, JA; Steiner, RD1
Batta, AK; Honda, A; Honda, M; Salen, G; Shefer, S; Tint, GS1
Kelley, RI1
Haas, D; Hoffmann, GF; Kelley, RI1

Reviews

2 review(s) available for mevalonic acid and Smith-Lemli-Opitz Syndrome

ArticleYear
Inborn errors of cholesterol biosynthesis.
    Advances in pediatrics, 2000, Volume: 47

    Topics: Autistic Disorder; Bone Diseases, Developmental; Child; Cholesterol; Cholesterol, Dietary; Chondrodysplasia Punctata; Desmosterol; Diagnosis, Differential; Humans; Lipid Metabolism, Inborn Errors; Mevalonic Acid; Smith-Lemli-Opitz Syndrome; Steroids

2000
Inherited disorders of cholesterol biosynthesis.
    Neuropediatrics, 2001, Volume: 32, Issue:3

    Topics: Abnormalities, Multiple; Alleles; Child; Cholesterol; Chondrodysplasia Punctata; Humans; Hypergammaglobulinemia; Immunoglobulin D; Lipid Metabolism, Inborn Errors; Mevalonic Acid; Phosphotransferases (Alcohol Group Acceptor); Smith-Lemli-Opitz Syndrome

2001

Other Studies

6 other study(ies) available for mevalonic acid and Smith-Lemli-Opitz Syndrome

ArticleYear
A Pilot Study of the Association of Markers of Cholesterol Synthesis with Disturbed Sleep in Smith-Lemli-Opitz Syndrome.
    Journal of developmental and behavioral pediatrics : JDBP, 2016, Volume: 37, Issue:5

    Topics: Adolescent; Biomarkers; Child; Child, Preschool; Cholesterol; Female; Humans; Infant; Male; Mevalonic Acid; Pilot Projects; Rare Diseases; Sleep Wake Disorders; Smith-Lemli-Opitz Syndrome

2016
Quantitative proteomics analysis of inborn errors of cholesterol synthesis: identification of altered metabolic pathways in DHCR7 and SC5D deficiency.
    Molecular & cellular proteomics : MCP, 2010, Volume: 9, Issue:7

    Topics: Animals; Brain; Caspase 3; Cholesterol; Enzyme Activation; Female; Metabolic Networks and Pathways; Mevalonic Acid; Mice; Mice, Knockout; Molecular Sequence Data; Molecular Structure; Oxidoreductases Acting on CH-CH Group Donors; Proteomics; rab GTP-Binding Proteins; rab5 GTP-Binding Proteins; rab7 GTP-Binding Proteins; Smith-Lemli-Opitz Syndrome; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization

2010
No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome.
    Journal of inherited metabolic disease, 2012, Volume: 35, Issue:5

    Topics: Child; Cholesterol; Cholesterol, Dietary; Dehydrocholesterols; Diet, High-Fat; Dietary Supplements; Female; Glutarates; Humans; Hydroxymethylglutaryl CoA Reductases; Male; Mevalonic Acid; Oxidoreductases Acting on CH-CH Group Donors; Simvastatin; Smith-Lemli-Opitz Syndrome; Terpenes

2012
Feedback inhibition of the cholesterol biosynthetic pathway in patients with Smith-Lemli-Opitz syndrome as demonstrated by urinary mevalonate excretion.
    Journal of lipid research, 2002, Volume: 43, Issue:10

    Topics: Adolescent; Case-Control Studies; Child; Child, Preschool; Cholesterol; Cholesterol, Dietary; Feedback, Physiological; Female; Humans; Hydroxymethylglutaryl CoA Reductases; Infant; Male; Mevalonic Acid; Smith-Lemli-Opitz Syndrome; Sterols; Treatment Outcome

2002
Increased nonsterol isoprenoids, dolichol and ubiquinone, in the Smith-Lemli-Opitz syndrome: effects of dietary cholesterol.
    Journal of lipid research, 2006, Volume: 47, Issue:12

    Topics: Adolescent; Adult; Case-Control Studies; Child; Child, Preschool; Cholesterol; Cholesterol, Dietary; Dolichols; Female; Humans; Infant; Male; Mevalonic Acid; Models, Biological; Smith-Lemli-Opitz Syndrome; Terpenes; Ubiquinone

2006
Effect of YM 9429, a potent teratogen, on cholesterol biosynthesis in cultured cells and rat liver microsomes.
    Steroids, 1996, Volume: 61, Issue:9

    Topics: Animals; Cholesterol; Enzyme Inhibitors; Fibroblasts; Humans; Hydroxymethylglutaryl CoA Reductases; Kinetics; Liver Neoplasms, Experimental; Mevalonic Acid; Microsomes, Liver; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Piperazines; Piperidines; Rats; Smith-Lemli-Opitz Syndrome; Teratogens; Tumor Cells, Cultured

1996