lathosterol has been researched along with 7-Dehydrocholesterol Reductase Deficiency in 10 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 4 (40.00) | 18.2507 |
| 2000's | 4 (40.00) | 29.6817 |
| 2010's | 2 (20.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Backlund, PS; Jiang, XS; Porter, FD; Wassif, CA; Yergey, AL | 1 |
| Matabosch, X; Serra, M; Shackleton, C; Watson, G; Ying, L | 1 |
| Björkhem, I; Lövgren-Sandblom, A; Starck, L | 1 |
| Herman, GE | 1 |
| Andria, G; Balli, F; Cervasio, M; Corso, G; D'Armiento, M; Ferrari, P; Hall, CM; Parenti, G; Parisi, I; Rivasi, F; Rossi, M; Vecchione, R | 1 |
| Batta, AK; Chen, TC; Elias, ER; Holick, MF; Honda, A; Irons, M; Salen, G; Shefer, S; Tint, GS | 1 |
| Batta, AK; Chen, TS; Honda, A; Salen, G; Shefer, S; Tint, GS | 1 |
| Lund, E; Starck, L; Venizelos, N | 1 |
| Batta, AK; Honda, A; Honda, M; Salen, G; Shefer, S; Tint, GS | 1 |
| Ruan, B; Schroepfer, GJ; Tsai, J; Wilson, WK | 1 |
1 review(s) available for lathosterol and 7-Dehydrocholesterol Reductase Deficiency
| Article | Year |
|---|---|
Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes.
Topics: Animals; Bone Diseases, Developmental; Cholesterol; Chondrodysplasia Punctata; Genetic Linkage; Humans; Metabolic Diseases; Metabolism, Inborn Errors; Mice; Models, Biological; Models, Chemical; Smith-Lemli-Opitz Syndrome; Syndrome; X Chromosome | 2003 |
1 trial(s) available for lathosterol and 7-Dehydrocholesterol Reductase Deficiency
| Article | Year |
|---|---|
Cholesterol treatment forever? The first Scandinavian trial of cholesterol supplementation in the cholesterol-synthesis defect Smith-Lemli-Opitz syndrome.
Topics: Age Factors; Child; Child, Preschool; Cholagogues and Choleretics; Cholesterol; Cholesterol, Dietary; Dehydrocholesterols; Dietary Supplements; Female; Follow-Up Studies; Humans; Infant; Male; Photosensitivity Disorders; Polyneuropathies; Sex Factors; Smith-Lemli-Opitz Syndrome; Taurocholic Acid; Time Factors; Up-Regulation | 2002 |
8 other study(ies) available for lathosterol and 7-Dehydrocholesterol Reductase Deficiency
| Article | Year |
|---|---|
Quantitative proteomics analysis of inborn errors of cholesterol synthesis: identification of altered metabolic pathways in DHCR7 and SC5D deficiency.
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 |
Hair and skin sterols in normal mice and those with deficient dehydrosterol reductase (DHCR7), the enzyme associated with Smith-Lemli-Opitz syndrome.
Topics: Animals; Cholesterol; Dehydrocholesterols; Desmosterol; Disease Models, Animal; Gas Chromatography-Mass Spectrometry; Hair; Lanosterol; Mice; Mutation; Oxidoreductases Acting on CH-CH Group Donors; Skin; Smith-Lemli-Opitz Syndrome; Sterols | 2010 |
Clinical phenotype of lathosterolosis.
Topics: Child; Child, Preschool; Cholesterol; Congenital Abnormalities; Female; Humans; Lipid Metabolism, Inborn Errors; Male; Oxidoreductases Acting on CH-CH Group Donors; Phenotype; Smith-Lemli-Opitz Syndrome | 2007 |
Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes.
Topics: Cholesterol; Female; Homozygote; Humans; Microsomes, Liver; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Smith-Lemli-Opitz Syndrome | 1995 |
Defective conversion of 7-dehydrocholesterol to cholesterol in cultured skin fibroblasts from Smith-Lemli-Opitz syndrome homozygotes.
Topics: Adolescent; Adult; Cells, Cultured; Child; Child, Preschool; Cholesterol; Dehydrocholesterols; Female; Fibroblasts; Humans; Male; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Skin; Smith-Lemli-Opitz Syndrome; Tritium | 1995 |
Detection of defective 3 beta-hydroxysterol delta 7-reductase activity in cultured human fibroblasts: a method for the diagnosis of Smith-Lemli-Opitz syndrome.
Topics: Cells, Cultured; Cholesterol; Chromatography, High Pressure Liquid; Culture Media; Fibroblasts; Gas Chromatography-Mass Spectrometry; Humans; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Prenatal Diagnosis; Skin; Smith-Lemli-Opitz Syndrome | 1996 |
Effect of YM 9429, a potent teratogen, on cholesterol biosynthesis in cultured cells and rat liver microsomes.
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 |
Aberrant pathways in the late stages of cholesterol biosynthesis in the rat. Origin and metabolic fate of unsaturated sterols relevant to the Smith-Lemli-Opitz syndrome.
Topics: Aerobiosis; Anaerobiosis; Animals; Cholesterol; Chromatography, High Pressure Liquid; Dehydrocholesterols; Enzyme Inhibitors; Female; Magnetic Resonance Spectroscopy; Microsomes, Liver; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Rats; Rats, Sprague-Dawley; Smith-Lemli-Opitz Syndrome; Sterols; Tritium | 2000 |