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NTIS 바로가기The Journal of laboratory and clinical medicine, v.136 no.6, 2000년, pp.457 - 467
Nissinen, Markku J. (Helsinki and Espoo, Finland) , Gylling, Helena (Helsinki and Espoo, Finland) , Kaski, Markus (Helsinki and Espoo, Finland) , Tammisto, Paavo (Helsinki and Espoo, Finland) , Mieskonen, Suvi (Helsinki and Espoo, Finland) , Ignatius, Jaakko (Helsinki and Espoo, Finland) , Miettinen, Tatu A. (Helsinki and Espoo, Finland)
AbstractSmith-Lemli-Opitz syndrome (SLOS) is an inherited disorder of cholesterol metabolism in which 7- and 8-dehydrocholesterols are accumulated in blood and tissues. Diagnosis of SLOS and other disorders in cholesterol metabolism (eg, cerebrotendinous xanthomatosis, phytosterolemia, desmosterolos...
Science Porter 274 255 1996 10.1126/science.274.5285.255 Cholesterol modification of hedgehog signalling proteins in animal development
J Clin Invest Spritz 52 520 1973 10.1172/JCI107210 Myelin from human peripheral nerves. Quantitative and qualitative studies in two age groups
J Clin Invest Belknap 82 2077 1988 10.1172/JCI113829 Sterol synthesis and low density lipoprotein clearance in vivo in the pregnant rat, placenta, and fetus. Sources for tissue cholesterol during fetal development
J Pediatr Smith 64 210 1964 10.1016/S0022-3476(64)80264-X A newly recognized syndrome of multiple congenital anomalies
Lancet Irons 341 1414 1993 10.1016/0140-6736(93)90983-N Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome
N Engl J Med Tint 330 107 1994 10.1056/NEJM199401133300205 Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome
J Clin Invest Björkhem 71 142 1983 10.1172/JCI110742 Role of the 26-hydroksylase in the biosynthesis of bile acids in the normal state and in CTX
J Clin Invest Bhattacharyya 53 1033 1974 10.1172/JCI107640 β-Sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters
Björkhem 2073 1996 Inborn errors in bile acid biosynthesis and storage of sterols other than cholesterol
Ann Med Lütjohann 29 181 1997 10.3109/07853899708999333 Phytosterolaemia: diagnosis, characterization and therapeutical approaches
Lancet Clayton 348 404 1996 10.1016/S0140-6736(05)65020-9 Desmosterolosis: a new inborn error of cholesterol biosynthesis
Am J Med Genet Kelley 83 213 1999 10.1002/(SICI)1096-8628(19990319)83:3<213::AID-AJMG15>3.0.CO;2-C Abnormal sterol metabolism in patients with Conradi-Hünermann-Happle syndrome and sporadic lethal chondrodysplasia punctata
Clin Chim Acta Kelley 236 45 1995 10.1016/0009-8981(95)06038-4 Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts
Clin Chem Jira 43 129 1997 10.1093/clinchem/43.1.129 Pitfalls in measuring plasma cholesterol in the Smith-Lemli-Opitz syndrome
J Lipid Res Tint 36 89 1995 10.1016/S0022-2275(20)39757-1 Markedly increased tissue concentrations of 7-dehydrocholesterol combined with low levels of cholesterol are characteristic of the Smith-Lemli-Opitz syndrome
J Lipid Res Batta 36 705 1995 10.1016/S0022-2275(20)40056-2 Identification of 8-dehydrocholesterol (cholesta-5,8-dien-3β-ol) in patients with Smith-Lemli-Opitz syndrome
Am J Med Genet Lowry 5 413 1980 10.1002/ajmg.1320050205 Borderline intelligence in the Smith-Lemli-Opitz syndrome
J Med Gen Ryan 35 558 1998 10.1136/jmg.35.7.558 Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype
Proc Natl Acad Sci USA Moebius 95 1899 1998 10.1073/pnas.95.4.1899 Molecular cloning and expression of the human delta7-sterol reductase
Proc Natl Acad Sci USA Fitzky 95 8181 1998 10.1073/pnas.95.14.8181 Mutations in the Δ7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome
Am J Hum Genet Wassif 63 55 1998 10.1086/301936 Mutations in the human sterol Δ7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome
Am J Hum Genet Waterham 63 329 1998 10.1086/301982 Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene
Curr Opin Lipidol Fitzky 10 123 1999 10.1097/00041433-199904000-00006 Molecular genetics of the Smith-Lemli-Opitz syndrome and post-squalene sterol metabolism
Am J Med Genet Curry 26 45 1987 10.1002/ajmg.1320260110 Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality
Am J Med Genet Elias 68 305 1997 10.1002/(SICI)1096-8628(19970131)68:3<305::AID-AJMG11>3.0.CO;2-X Clinical effects of cholesterol supplementation in six patients with Smith-Lemli-Opitz-syndrome (SLOS)
Am J Med Genet Irons 50 347 1994 10.1002/ajmg.1320500409 Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient
Arterioscler Thromb Vasc Biol Miller 15 2151 1995 10.1161/01.ATV.15.12.2151 A prospective, randomized trial of phenytoin in nonepileptic subjects with reduced HDL cholesterol
Stroke Kaste 14 525 1983 10.1161/01.STR.14.4.525 Increase of low serum concentrations of high-density lipoprotein (HDL) cholesterol in TIA-patients treated with phenytoin
Epilepsia Sudhop 40 480 1999 10.1111/j.1528-1157.1999.tb00744.x Increased high density lipoprotein cholesterol in patients with epilepsy treated with carbamazepine: a gender-related study
Epilepsia Isojärvi 35 1217 1994 10.1111/j.1528-1157.1994.tb01792.x Liver enzyme induction and serum lipid levels after replacement of carbamazepine with oxcarbazepine
Am J Psychiatry Gaulin 156 1270 1999 10.1176/ajp.156.8.1270 Clozapine-associated elevation in serum triglycerides
Clin Chem Friedewald 18 499 1972 10.1093/clinchem/18.6.499 Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge
Miettinen 183 1983 Non-cholesterol sterols and bile acid production in hypercholesterolemic patients with ileal bypass
J Lipid Res Miettinen 29 43 1988 10.1016/S0022-2275(20)38566-7 Cholesterol metabolism during ketoconazole treatment in man
J Lipid Res Miettinen 23 466 1982 10.1016/S0022-2275(20)38144-X Diurnal variation of cholesterol precursors squalene and methyl sterols in human plasma lipoproteins
J Lipid Res Strandberg 31 1637 1990 10.1016/S0022-2275(20)42347-8 Metabolic variables of cholesterol during squalene feeding in humans: comparison with cholestyramine treatment
Am J Epidemiol Miettinen 131 20 1990 10.1093/oxfordjournals.aje.a115479 Serum plant sterols and cholesterol precursors reflect cholesterol absorption and synthesis in volunteers of a randomly selected male population
Am J Clin Nutr Tilvis 43 92 1986 10.1093/ajcn/43.1.92 Serum plant sterols and their relation to cholesterol absorption
Am J Med Genet Cunniff 68 263 1997 10.1002/(SICI)1096-8628(19970131)68:3<263::AID-AJMG4>3.0.CO;2-N Clinical and biochemical spectrum of patients with RSH/ Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism
Am J Hum Genet Kelley 63 322 1998 10.1086/301987 RSH/Smith-Lemli-Opitz syndrome: mutations and metabolic morphogenesis
Eur J Clin Pharm Kesäniemi 40 S65 1991 10.1007/BF03216293 Inhibition of cholesterol absorption by neomycin, benzodiazepine derivatives and ketoconazole
Antimicrobiol Agents Chemother Van den Bosche 17 922 1980 10.1128/AAC.17.6.922 In vitro and in vivo effects of the antimycotic drug ketoconazole on sterol synthesis
Lancet Miettinen 2 1271 1984 10.1016/S0140-6736(84)92814-9 Ketoconazole and cholesterol synthesis
Metabolism Gylling 40 35 1991 10.1016/0026-0495(91)90189-4 Hypolipidemic effect and mechanism of ketoconazole without and with cholestyramine in familial hypercholesterolemia
J Clin Oncol Gylling 13 2900 1995 10.1200/JCO.1995.13.12.2900 Tamoxifen and toremifene lower serum cholesterol by inhibition of Δ8-cholestenol conversion to lathosterol in women with breast cancer
Hepatology Nikkilä 13 663 1991 10.1002/hep.1840130409 High cholestanol and low campesterol-to-sitosterol ratio in serum of patients with primary biliary cirrhosis before liver transplantation
Digestion Hakala 57 83 1996 10.1159/000201318 Serum cholesterol, cholesterol precursors and plant sterols in different inflammatory bowel diseases
J Lipid Res Nikkilä 37 2687 1996 10.1016/S0022-2275(20)37471-X Serum squalene and noncholesterol sterols before and after delivery in normal and cholestatic pregnancy
Acta Psychiatr Scand Christensson 352 7 1989 10.1111/j.1600-0447.1989.tb06430.x Pharmacological data of the atypical neuroleptic compound melperone (Buronil)
J Lipid Res Axelson 32 1441 1991 10.1016/S0022-2275(20)41911-X Occurrence of isomeric dehydrocholesterols in human plasma
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