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3. 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]
4. [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]
5. LC-MS/MS-based quantification of cholesterol and related metabolites in dried blood for the screening of inborn errors of sterol metabolism. Becker S; Röhnike S; Empting S; Haas D; Mohnike K; Beblo S; Mütze U; Husain RA; Thiery J; Ceglarek U Anal Bioanal Chem; 2015 Jul; 407(17):5227-33. PubMed ID: 25963649 [TBL] [Abstract][Full Text] [Related]
6. Cholesterol supplementation with egg yolk increases plasma cholesterol and decreases plasma 7-dehydrocholesterol in Smith-Lemli-Opitz syndrome. Linck LM; Lin DS; Flavell D; Connor WE; Steiner RD Am J Med Genet; 2000 Aug; 93(5):360-5. PubMed ID: 10951458 [TBL] [Abstract][Full Text] [Related]
7. Quantification of 7-dehydrocholesterol in plasma and amniotic fluid by liquid chromatography/particle beam-mass spectrometry as a biochemical diagnostic marker for the Smith-Lemli-Opitz syndrome. Sattler W; Leis HJ; Kostner GM; Malle E Rapid Commun Mass Spectrom; 1995; 9(13):1288-92. PubMed ID: 8527820 [TBL] [Abstract][Full Text] [Related]
8. Prenatal diagnosis of Smith-Lemli-Opitz syndrome is possible by measurement of 7-dehydrocholesterol in amniotic fluid. Dallaire L; Mitchell G; Giguère R; Lefebvre F; Melançon SB; Lambert M Prenat Diagn; 1995 Sep; 15(9):855-8. PubMed ID: 8559757 [TBL] [Abstract][Full Text] [Related]
9. Sterol profiles in plasma and erythrocyte membranes in patients with Smith-Lemli-Opitz syndrome: a six-year experience. Corso G; Gelzo M; Barone R; Clericuzio S; Pianese P; Nappi A; Dello Russo A Clin Chem Lab Med; 2011 Aug; 49(12):2039-46. PubMed ID: 21864209 [TBL] [Abstract][Full Text] [Related]
10. Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients. Griffiths WJ; Abdel-Khalik J; Crick PJ; Ogundare M; Shackleton CH; Tuschl K; Kwok MK; Bigger BW; Morris AA; Honda A; Xu L; Porter NA; Björkhem I; Clayton PT; Wang Y J Steroid Biochem Mol Biol; 2017 May; 169():77-87. PubMed ID: 26976653 [TBL] [Abstract][Full Text] [Related]
11. Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism. Cunniff C; Kratz LE; Moser A; Natowicz MR; Kelley RI Am J Med Genet; 1997 Jan; 68(3):263-9. PubMed ID: 9024557 [TBL] [Abstract][Full Text] [Related]
12. [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]
13. Oxysterols in the circulation of patients with the Smith-Lemli-Opitz syndrome: abnormal levels of 24S- and 27-hydroxycholesterol. Björkhem I; Starck L; Andersson U; Lütjohann D; von Bahr S; Pikuleva I; Babiker A; Diczfalusy U J Lipid Res; 2001 Mar; 42(3):366-71. PubMed ID: 11254748 [TBL] [Abstract][Full Text] [Related]
14. Biochemical and Clinical Effects of Vitamin E Supplementation in Hungarian Smith-Lemli-Opitz Syndrome Patients. Koczok K; Horváth L; Korade Z; Mezei ZA; Szabó GP; Porter NA; Kovács E; Mirnics K; Balogh I Biomolecules; 2021 Aug; 11(8):. PubMed ID: 34439893 [TBL] [Abstract][Full Text] [Related]
15. A routine method for cholesterol and 7-dehydrocholesterol analysis in dried blood spot by GC-FID to diagnose the Smith-Lemli-Opitz syndrome. Gelzo M; Clericuzio S; Barone R; D'Apolito O; Dello Russo A; Corso G J Chromatogr B Analyt Technol Biomed Life Sci; 2012 Oct; 907():154-8. PubMed ID: 22985726 [TBL] [Abstract][Full Text] [Related]
16. Assays of plasma dehydrocholesteryl esters and oxysterols from Smith-Lemli-Opitz syndrome patients. Liu W; Xu L; Lamberson CR; Merkens LS; Steiner RD; Elias ER; Haas D; Porter NA J Lipid Res; 2013 Jan; 54(1):244-53. PubMed ID: 23072947 [TBL] [Abstract][Full Text] [Related]
17. Direct analysis of filter paper blood specimens for identification of Smith-Lemli-Opitz syndrome using time-of-flight secondary ion mass spectrometry. Zimmerman PA; Hercules DM; Naylor EW Am J Med Genet; 1997 Jan; 68(3):300-4. PubMed ID: 9024563 [TBL] [Abstract][Full Text] [Related]
18. Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome. Langius FA; Waterham HR; Romeijn GJ; Oostheim W; de Barse MM; Dorland L; Duran M; Beemer FA; Wanders RJ; Poll-The BT Am J Med Genet A; 2003 Sep; 122A(1):24-9. PubMed ID: 12949967 [TBL] [Abstract][Full Text] [Related]
19. Diagnosis of Smith-Lemli-Opitz syndrome from stored filter paper blood specimens. Starck L; Lövgren A Arch Dis Child; 2000 Jun; 82(6):490-2. PubMed ID: 10833186 [TBL] [Abstract][Full Text] [Related]
20. Effects of dietary cholesterol on plasma lipoproteins in Smith-Lemli-Opitz syndrome. Merkens LS; Connor WE; Linck LM; Lin DS; Flavell DP; Steiner RD Pediatr Res; 2004 Nov; 56(5):726-32. PubMed ID: 15319461 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]