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Journal Abstract Search

357 related items for PubMed ID: 25963649

  • 1.
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  • 2. 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 15; 907():154-8. PubMed ID: 22985726
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  • 3. Direct analysis of sterols from dried plasma/blood spots by an atmospheric pressure thermal desorption chemical ionization mass spectrometry (APTDCI-MS) method for a rapid screening of Smith-Lemli-Opitz syndrome.
    Paglia G, D'Apolito O, Gelzo M, Dello Russo A, Corso G.
    Analyst; 2010 Apr 15; 135(4):789-96. PubMed ID: 20349543
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  • 4. Effects of sample storage on 7- and 8-dehydrocholesterol levels analysed on whole blood spots by gas chromatography-mass spectrometry-selected ion monitoring.
    Corso G, Rossi M, De BD, Rossi I, Parenti G, Dello RA.
    J Chromatogr B Analyt Technol Biomed Life Sci; 2002 Jan 25; 766(2):365-70. PubMed ID: 11824824
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  • 5. 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 25; 169():77-87. PubMed ID: 26976653
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  • 6. 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 May 25; 28(6):1191-6. PubMed ID: 16435228
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  • 8. 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 May 25; 9(13):1288-92. PubMed ID: 8527820
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  • 9. 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 25; 54(1):244-53. PubMed ID: 23072947
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  • 10. Pitfalls in measuring plasma cholesterol in the Smith-Lemli-Opitz syndrome.
    Jira PE, de Jong JG, Janssen-Zijlstra FS, Wendel U, Wevers RA.
    Clin Chem; 1997 Jan 25; 43(1):129-33. PubMed ID: 8990234
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  • 11. 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 17; 11(8):. PubMed ID: 34439893
    [Abstract] [Full Text] [Related]

  • 12. Clinical and biochemical screening for Smith-Lemli-Opitz syndrome. Italian SLOS Collaborative Group.
    Guzzetta V, De Fabiani E, Galli G, Colombo C, Corso G, Lecora M, Parenti G, Strisciuglio P, Andria G.
    Acta Paediatr; 1996 Aug 17; 85(8):937-42. PubMed ID: 8863875
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  • 13. 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 28; 93(5):360-5. PubMed ID: 10951458
    [Abstract] [Full Text] [Related]

  • 14. Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts.
    Kelley RI.
    Clin Chim Acta; 1995 Apr 30; 236(1):45-58. PubMed ID: 7664465
    [Abstract] [Full Text] [Related]

  • 15. A rapid UPLC-MS/MS method for simultaneous separation of 48 acylcarnitines in dried blood spots and plasma useful as a second-tier test for expanded newborn screening.
    Gucciardi A, Pirillo P, Di Gangi IM, Naturale M, Giordano G.
    Anal Bioanal Chem; 2012 Aug 30; 404(3):741-51. PubMed ID: 22766757
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  • 18. Potential of sterol analysis by liquid chromatography-tandem mass spectrometry for the prenatal diagnosis of Smith-Lemli-Opitz syndrome.
    Griffiths WJ, Wang Y, Karu K, Samuel E, McDonnell S, Hornshaw M, Shackleton C.
    Clin Chem; 2008 Aug 30; 54(8):1317-24. PubMed ID: 18556335
    [Abstract] [Full Text] [Related]

  • 19. 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 30; 172(5):623-30. PubMed ID: 23319240
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