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Journal Abstract Search

271 related items for PubMed ID: 28796426

  • 1. Vitamin D levels in Smith-Lemli-Opitz syndrome.
    Movassaghi M, Bianconi S, Feinn R, Wassif CA, Porter FD.
    Am J Med Genet A; 2017 Oct; 173(10):2577-2583. PubMed ID: 28796426
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  • 2. 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 Oct; 110(1-2):176-8. PubMed ID: 23628460
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  • 3. 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 Oct; 28(1):69-80. PubMed ID: 15702407
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  • 8. 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 15; 122A(1):24-9. PubMed ID: 12949967
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  • 9. Smith-Lemli-Opitz Syndrome in a newborn infant with developmental abnormalities and low endogenous cholesterol.
    Yang Y, Yassan L, Leung EKY, Yeo KJ.
    Clin Chim Acta; 2018 Apr 15; 479():208-211. PubMed ID: 29355488
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  • 10. Antioxidant supplementation ameliorates molecular deficits in Smith-Lemli-Opitz syndrome.
    Korade Z, Xu L, Harrison FE, Ahsen R, Hart SE, Folkes OM, Mirnics K, Porter NA.
    Biol Psychiatry; 2014 Feb 01; 75(3):215-22. PubMed ID: 23896203
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  • 13. [Historical aspects of the Smith-Lemli-Opitz syndrome].
    Bzdúch V, Behúlová D, Skodová J, Skokňová M, Kozák L.
    Cas Lek Cesk; 2014 Feb 01; 153(1):36-9. PubMed ID: 24506692
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  • 15. No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome.
    Roullet JB, Merkens LS, Pappu AS, Jacobs MD, Winter R, Connor WE, Steiner RD.
    J Inherit Metab Dis; 2012 Sep 01; 35(5):859-69. PubMed ID: 22391996
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  • 16. 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 Sep 01; 28(6):1191-6. PubMed ID: 16435228
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  • 17. Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.
    Wassif CA, Maslen C, Kachilele-Linjewile S, Lin D, Linck LM, Connor WE, Steiner RD, Porter FD.
    Am J Hum Genet; 1998 Jul 01; 63(1):55-62. PubMed ID: 9634533
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  • 18. 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 01; 172(5):623-30. PubMed ID: 23319240
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  • 19. 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 May 01; 71(1-2):163-74. PubMed ID: 11001807
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  • 20. An oxysterol biomarker for 7-dehydrocholesterol oxidation in cell/mouse models for Smith-Lemli-Opitz syndrome.
    Xu L, Korade Z, Rosado JDA, Liu W, Lamberson CR, Porter NA.
    J Lipid Res; 2011 Jun 01; 52(6):1222-1233. PubMed ID: 21402677
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