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7. 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]
8. [Smith-Lemli-Opitz syndrome; a special defect in cholesterol metabolism]. Aalfs CM; Hennekam RC; Wanders RJ; Jira PE; Pilon JW; Wijburg FA Ned Tijdschr Geneeskd; 1996 Jul; 140(28):1463-6. PubMed ID: 8766772 [TBL] [Abstract][Full Text] [Related]
9. Abnormal cholesterol biosynthesis in sitosterolaemia and the Smith-Lemli-Opitz syndrome. Salen G; Shefer S; Batta AK; Tint GS; Xu G; Honda A J Inherit Metab Dis; 1996; 19(4):391-400. PubMed ID: 8884563 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. Changes in serum sterols of rats treated with 7-dehydrocholesterol-delta 7-reductase inhibitors: comparison to levels in humans with Smith-Lemli-Opitz syndrome. Wolf C; Chevy F; Pham J; Kolf-Clauw M; Citadelle D; Mulliez N; Roux C J Lipid Res; 1996 Jun; 37(6):1325-33. PubMed ID: 8808767 [TBL] [Abstract][Full Text] [Related]
13. 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]
14. Mild Smith-Lemli-Opitz syndrome: further delineation of 5 Polish cases and review of the literature. Jezela-Stanek A; Ciara E; Malunowicz EM; Korniszewski L; Piekutowska-Abramczuk D; Popowska E; Krajewska-Walasek M Eur J Med Genet; 2008; 51(2):124-40. PubMed ID: 18249054 [TBL] [Abstract][Full Text] [Related]
15. 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]
16. RSH/Smith-Lemli-Opitz syndrome: a multiple congenital anomaly/mental retardation syndrome due to an inborn error of cholesterol biosynthesis. Porter FD Mol Genet Metab; 2000; 71(1-2):163-74. PubMed ID: 11001807 [TBL] [Abstract][Full Text] [Related]
17. [Biochemical diagnosis of Smith-Lemli-Opitz syndrome in a patient with congenital adrenal hyperplasia]. GarcíaFuentes E; icioso Recio MV ; del Castillo Acedo Del Olmo E ; atas Jurado MM ; Arana Agüera M ; López López J An Esp Pediatr; 2000 Nov; 53(5):482-7. PubMed ID: 11141372 [TBL] [Abstract][Full Text] [Related]
18. Inhibition of 7-dehydrocholesterol reductase by the teratogen AY9944: a rat model for Smith-Lemli-Opitz syndrome. Kolf-Clauw M; Chevy F; Wolf C; Siliart B; Citadelle D; Roux C Teratology; 1996 Sep; 54(3):115-25. PubMed ID: 8987154 [TBL] [Abstract][Full Text] [Related]