255 related articles for article (PubMed ID: 22391996)
21. Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS).
Haas D; Garbade SF; Vohwinkel C; Muschol N; Trefz FK; Penzien JM; Zschocke J; Hoffmann GF; Burgard P
J Inherit Metab Dis; 2007 Jun; 30(3):375-87. PubMed ID: 17497248
[TBL] [Abstract][Full Text] [Related]
22. Simvastatin. A new therapeutic approach for Smith-Lemli-Opitz syndrome.
Jira PE; Wevers RA; de Jong J; Rubio-Gozalbo E; Janssen-Zijlstra FS; van Heyst AF; Sengers RC; Smeitink JA
J Lipid Res; 2000 Aug; 41(8):1339-46. PubMed ID: 10946022
[TBL] [Abstract][Full Text] [Related]
23. Cholesterol biosynthesis from birth to adulthood in a mouse model for 7-dehydrosterol reductase deficiency (Smith-Lemli-Opitz syndrome).
Marcos J; Shackleton CH; Buddhikot MM; Porter FD; Watson GL
Steroids; 2007 Oct; 72(11-12):802-8. PubMed ID: 17714750
[TBL] [Abstract][Full Text] [Related]
24. Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome.
Koo G; Conley SK; Wassif CA; Porter FD
Am J Med Genet A; 2010 Aug; 152A(8):2094-8. PubMed ID: 20635399
[TBL] [Abstract][Full Text] [Related]
25. Peroxisomal cholesterol biosynthesis and Smith-Lemli-Opitz syndrome.
Weinhofer I; Kunze M; Stangl H; Porter FD; Berger J
Biochem Biophys Res Commun; 2006 Jun; 345(1):205-9. PubMed ID: 16678134
[TBL] [Abstract][Full Text] [Related]
26. Reduced cholesterol levels impair Smoothened activation in Smith-Lemli-Opitz syndrome.
Blassberg R; Macrae JI; Briscoe J; Jacob J
Hum Mol Genet; 2016 Feb; 25(4):693-705. PubMed ID: 26685159
[TBL] [Abstract][Full Text] [Related]
27. Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy.
Correa-Cerro LS; Wassif CA; Kratz L; Miller GF; Munasinghe JP; Grinberg A; Fliesler SJ; Porter FD
Hum Mol Genet; 2006 Mar; 15(6):839-51. PubMed ID: 16446309
[TBL] [Abstract][Full Text] [Related]
28. Cholesterol storage defect in RSH/Smith-Lemli-Opitz syndrome fibroblasts.
Wassif CA; Vied D; Tsokos M; Connor WE; Steiner RD; Porter FD
Mol Genet Metab; 2002 Apr; 75(4):325-34. PubMed ID: 12051964
[TBL] [Abstract][Full Text] [Related]
29. Vitamin D status in patients affected by Smith-Lemli-Opitz syndrome.
Rossi M; Federico G; Corso G; Parenti G; Battagliese A; Frascogna AR; Della Casa R; Dello Russo A; Strisciuglio P; Saggese G; Andria G
J Inherit Metab Dis; 2005; 28(1):69-80. PubMed ID: 15702407
[TBL] [Abstract][Full Text] [Related]
30. Variant RSH/Smith-Lemli-Opitz syndrome with atypical sterol metabolism.
Anderson AJ; Stephan MJ; Walker WO; Kelley RI
Am J Med Genet; 1998 Aug; 78(5):413-8. PubMed ID: 9714006
[TBL] [Abstract][Full Text] [Related]
31. Relation between biomarkers and clinical severity in patients with Smith-Lemli-Opitz syndrome.
Oláh AV; Szabó GP; Varga J; Balogh L; Csábi G; Csákváry V; Erwa W; Balogh I
Eur J Pediatr; 2013 May; 172(5):623-30. PubMed ID: 23319240
[TBL] [Abstract][Full Text] [Related]
32. Smith-Lemli-Opitz syndrome: the first malformation syndrome associated with defective cholesterol synthesis.
Battaile KP; Steiner RD
Mol Genet Metab; 2000; 71(1-2):154-62. PubMed ID: 11001806
[TBL] [Abstract][Full Text] [Related]
33. Modeling Smith-Lemli-Opitz syndrome with induced pluripotent stem cells reveals a causal role for Wnt/β-catenin defects in neuronal cholesterol synthesis phenotypes.
Francis KR; Ton AN; Xin Y; O'Halloran PE; Wassif CA; Malik N; Williams IM; Cluzeau CV; Trivedi NS; Pavan WJ; Cho W; Westphal H; Porter FD
Nat Med; 2016 Apr; 22(4):388-96. PubMed ID: 26998835
[TBL] [Abstract][Full Text] [Related]
34. Diagnosis of Smith-Lemli-Opitz syndrome by ultraviolet spectrophotometry.
Scalco FB; Cruzes VM; Vendramini RC; Brunetti IL; Moretti-Ferreira D
Braz J Med Biol Res; 2003 Oct; 36(10):1327-32. PubMed ID: 14502364
[TBL] [Abstract][Full Text] [Related]
35. Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of Smith-Lemli-Opitz Syndrome.
Hall P; Michels V; Gavrilov D; Matern D; Oglesbee D; Raymond K; Rinaldo P; Tortorelli S
Mol Genet Metab; 2013; 110(1-2):176-8. PubMed ID: 23628460
[TBL] [Abstract][Full Text] [Related]
36. Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome.
Salen G; Tint GS; Xu G; Batta AK; Irons M; Elias ER
Ital J Gastroenterol; 1995 Dec; 27(9):506-8. PubMed ID: 8919321
[TBL] [Abstract][Full Text] [Related]
37. Smith-Lemli-Opitz syndrome with a classical phenotype, oesophageal achalasia and borderline plasma sterol concentrations.
Haas D; Armbrust S; Haas JP; Zschocke J; Mühlmann K; Fusch C; Neumann LM
J Inherit Metab Dis; 2005; 28(6):1191-6. PubMed ID: 16435228
[TBL] [Abstract][Full Text] [Related]
38. Biological activities of 7-dehydrocholesterol-derived oxysterols: implications for Smith-Lemli-Opitz syndrome.
Korade Z; Xu L; Shelton R; Porter NA
J Lipid Res; 2010 Nov; 51(11):3259-69. PubMed ID: 20702862
[TBL] [Abstract][Full Text] [Related]
39. Rapid identification of Smith-Lemli-Opitz syndrome homozygotes and heterozygotes (carriers) by measurement of deficient 7-dehydrocholesterol-delta 7-reductase activity in fibroblasts.
Shefer S; Salen G; Honda A; Batta A; Hauser S; Tint GS; Honda M; Chen T; Holick MF; Nguyen LB
Metabolism; 1997 Jul; 46(7):844-50. PubMed ID: 9225842
[TBL] [Abstract][Full Text] [Related]
40. Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome.
Salen G; Shefer S; Batta AK; Tint GS; Xu G; Honda A; Irons M; Elias ER
J Lipid Res; 1996 Jun; 37(6):1169-80. PubMed ID: 8808751
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]