$\require{mediawiki-texvc}$

연합인증

연합인증 가입 기관의 연구자들은 소속기관의 인증정보(ID와 암호)를 이용해 다른 대학, 연구기관, 서비스 공급자의 다양한 온라인 자원과 연구 데이터를 이용할 수 있습니다.

이는 여행자가 자국에서 발행 받은 여권으로 세계 각국을 자유롭게 여행할 수 있는 것과 같습니다.

연합인증으로 이용이 가능한 서비스는 NTIS, DataON, Edison, Kafe, Webinar 등이 있습니다.

한번의 인증절차만으로 연합인증 가입 서비스에 추가 로그인 없이 이용이 가능합니다.

다만, 연합인증을 위해서는 최초 1회만 인증 절차가 필요합니다. (회원이 아닐 경우 회원 가입이 필요합니다.)

연합인증 절차는 다음과 같습니다.

최초이용시에는
ScienceON에 로그인 → 연합인증 서비스 접속 → 로그인 (본인 확인 또는 회원가입) → 서비스 이용

그 이후에는
ScienceON 로그인 → 연합인증 서비스 접속 → 서비스 이용

연합인증을 활용하시면 KISTI가 제공하는 다양한 서비스를 편리하게 이용하실 수 있습니다.

[해외논문] Smith-Lemli-Opitz syndrome and other sterol disorders among Finns with developmental disabilities

The 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)

Abstract AI-Helper 아이콘AI-Helper

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...

참고문헌 (50)

  1. Science Porter 274 255 1996 10.1126/science.274.5285.255 Cholesterol modification of hedgehog signalling proteins in animal development 

  2. J Clin Invest Spritz 52 520 1973 10.1172/JCI107210 Myelin from human peripheral nerves. Quantitative and qualitative studies in two age groups 

  3. 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 

  4. J Pediatr Smith 64 210 1964 10.1016/S0022-3476(64)80264-X A newly recognized syndrome of multiple congenital anomalies 

  5. Lancet Irons 341 1414 1993 10.1016/0140-6736(93)90983-N Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome 

  6. N Engl J Med Tint 330 107 1994 10.1056/NEJM199401133300205 Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome 

  7. 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 

  8. J Clin Invest Bhattacharyya 53 1033 1974 10.1172/JCI107640 β-Sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters 

  9. Björkhem 2073 1996 Inborn errors in bile acid biosynthesis and storage of sterols other than cholesterol 

  10. Ann Med Lütjohann 29 181 1997 10.3109/07853899708999333 Phytosterolaemia: diagnosis, characterization and therapeutical approaches 

  11. Lancet Clayton 348 404 1996 10.1016/S0140-6736(05)65020-9 Desmosterolosis: a new inborn error of cholesterol biosynthesis 

  12. 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 

  13. 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 

  14. Clin Chem Jira 43 129 1997 10.1093/clinchem/43.1.129 Pitfalls in measuring plasma cholesterol in the Smith-Lemli-Opitz syndrome 

  15. 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 

  16. 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 

  17. Am J Med Genet Lowry 5 413 1980 10.1002/ajmg.1320050205 Borderline intelligence in the Smith-Lemli-Opitz syndrome 

  18. J Med Gen Ryan 35 558 1998 10.1136/jmg.35.7.558 Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype 

  19. 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 

  20. 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 

  21. 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 

  22. 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 

  23. 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 

  24. 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 

  25. 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) 

  26. 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 

  27. 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 

  28. 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 

  29. 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 

  30. 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 

  31. Am J Psychiatry Gaulin 156 1270 1999 10.1176/ajp.156.8.1270 Clozapine-associated elevation in serum triglycerides 

  32. 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 

  33. Miettinen 183 1983 Non-cholesterol sterols and bile acid production in hypercholesterolemic patients with ileal bypass 

  34. J Lipid Res Miettinen 29 43 1988 10.1016/S0022-2275(20)38566-7 Cholesterol metabolism during ketoconazole treatment in man 

  35. 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 

  36. 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 

  37. 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 

  38. Am J Clin Nutr Tilvis 43 92 1986 10.1093/ajcn/43.1.92 Serum plant sterols and their relation to cholesterol absorption 

  39. 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 

  40. Am J Hum Genet Kelley 63 322 1998 10.1086/301987 RSH/Smith-Lemli-Opitz syndrome: mutations and metabolic morphogenesis 

  41. Eur J Clin Pharm Kesäniemi 40 S65 1991 10.1007/BF03216293 Inhibition of cholesterol absorption by neomycin, benzodiazepine derivatives and ketoconazole 

  42. 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 

  43. Lancet Miettinen 2 1271 1984 10.1016/S0140-6736(84)92814-9 Ketoconazole and cholesterol synthesis 

  44. 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 

  45. 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 

  46. 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 

  47. Digestion Hakala 57 83 1996 10.1159/000201318 Serum cholesterol, cholesterol precursors and plant sterols in different inflammatory bowel diseases 

  48. 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 

  49. Acta Psychiatr Scand Christensson 352 7 1989 10.1111/j.1600-0447.1989.tb06430.x Pharmacological data of the atypical neuroleptic compound melperone (Buronil) 

  50. J Lipid Res Axelson 32 1441 1991 10.1016/S0022-2275(20)41911-X Occurrence of isomeric dehydrocholesterols in human plasma 

활용도 분석정보

상세보기
다운로드
내보내기

활용도 Top5 논문

해당 논문의 주제분야에서 활용도가 높은 상위 5개 콘텐츠를 보여줍니다.
더보기 버튼을 클릭하시면 더 많은 관련자료를 살펴볼 수 있습니다.

관련 콘텐츠

저작권 관리 안내
섹션별 컨텐츠 바로가기

AI-Helper ※ AI-Helper는 오픈소스 모델을 사용합니다.

AI-Helper 아이콘
AI-Helper
안녕하세요, AI-Helper입니다. 좌측 "선택된 텍스트"에서 텍스트를 선택하여 요약, 번역, 용어설명을 실행하세요.
※ AI-Helper는 부적절한 답변을 할 수 있습니다.

선택된 텍스트

맨위로