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3. Detection of defective 3 beta-hydroxysterol delta 7-reductase activity in cultured human fibroblasts: a method for the diagnosis of Smith-Lemli-Opitz syndrome. Lund E; Starck L; Venizelos N J Inherit Metab Dis; 1996; 19(1):59-64. PubMed ID: 8830178 [TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. Sterol concentrations in cultured Smith-Lemli-Opitz syndrome skin fibroblasts: diagnosis of a biochemically atypical case of the syndrome. Honda A; Tint GS; Salen G; Kelley RI; Honda M; Batta AK; Chen TS; Shefer S Am J Med Genet; 1997 Jan; 68(3):282-7. PubMed ID: 9024560 [TBL] [Abstract][Full Text] [Related]
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12. Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene. Waterham HR; Wijburg FA; Hennekam RC; Vreken P; Poll-The BT; Dorland L; Duran M; Jira PE; Smeitink JA; Wevers RA; Wanders RJ Am J Hum Genet; 1998 Aug; 63(2):329-38. PubMed ID: 9683613 [TBL] [Abstract][Full Text] [Related]
13. A reliable tool for detecting 7-dehydrocholesterol and cholesterol in human plasma and its use in diagnosis of Smith-Lemli-Opitz syndrome. Luo Y; Liu Z; Zeng Y; Zhang Y; Luan Y; Ma L; Chen L; Zou L; Yang J; Huang Z; Rao Y; Zhang C J Sep Sci; 2022 Mar; 45(5):1080-1093. PubMed ID: 34962712 [TBL] [Abstract][Full Text] [Related]
14. Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome. Waterham HR; Wanders RJ Biochim Biophys Acta; 2000 Dec; 1529(1-3):340-56. PubMed ID: 11111101 [TBL] [Abstract][Full Text] [Related]
15. Treatment of the cholesterol biosynthetic defect in Smith-Lemli-Opitz syndrome reproduced in rats by BM 15.766. Xu G; Salen G; Shefer S; Ness GC; Chen TS; Zhao Z; Salen L; Tint GS Gastroenterology; 1995 Oct; 109(4):1301-7. PubMed ID: 7557099 [TBL] [Abstract][Full Text] [Related]
16. Markedly increased tissue concentrations of 7-dehydrocholesterol combined with low levels of cholesterol are characteristic of the Smith-Lemli-Opitz syndrome. Tint GS; Seller M; Hughes-Benzie R; Batta AK; Shefer S; Genest D; Irons M; Elias E; Salen G J Lipid Res; 1995 Jan; 36(1):89-95. PubMed ID: 7706951 [TBL] [Abstract][Full Text] [Related]
17. [Inborn error of cholesterol biosynthesis: Smith-Lemli-Opitz syndrome]. Koczok K; V Oláh A; P Szabó G; Oláh É; Török O; Balogh I Orv Hetil; 2015 Oct; 156(42):1695-702. PubMed ID: 26551309 [TBL] [Abstract][Full Text] [Related]
18. Screening for abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome: rapid determination of plasma 7-dehydrocholesterol by ultraviolet spectrometry. Honda A; Batta AK; Salen G; Tint GS; Chen TS; Shefer S Am J Med Genet; 1997 Jan; 68(3):288-93. PubMed ID: 9024561 [TBL] [Abstract][Full Text] [Related]
19. Regulation of cholesterol biosynthetic pathway in patients with the Smith-Lemli-Opitz syndrome. Honda M; Tint GS; Honda A; Salen G; Shefer S; Batta AK; Matsuzaki Y; Tanaka N J Inherit Metab Dis; 2000 Jul; 23(5):464-74. PubMed ID: 10947201 [TBL] [Abstract][Full Text] [Related]
20. [Historical aspects of the Smith-Lemli-Opitz syndrome]. Bzdúch V; Behúlová D; Skodová J; Skokňová M; Kozák L Cas Lek Cesk; 2014; 153(1):36-9. PubMed ID: 24506692 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]