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Journal Abstract Search

196 related items for PubMed ID: 32178982

  • 1. Cholestane-3β, 5α, 6β-triol: Further insights into the performance of this oxysterol in diagnosis of Niemann-Pick disease type C.
    Cooper JA, Church HJ, Wu HY.
    Mol Genet Metab; 2020 May; 130(1):77-86. PubMed ID: 32178982
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  • 2. Cholestane-3β,5α,6β-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency.
    Pajares S, Arias A, García-Villoria J, Macías-Vidal J, Ros E, de las Heras J, Girós M, Coll MJ, Ribes A.
    J Lipid Res; 2015 Oct; 56(10):1926-35. PubMed ID: 26239048
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  • 3. Evaluation of plasma cholestane-3β,5α,6β-triol and 7-ketocholesterol in inherited disorders related to cholesterol metabolism.
    Boenzi S, Deodato F, Taurisano R, Goffredo BM, Rizzo C, Dionisi-Vici C.
    J Lipid Res; 2016 Mar; 57(3):361-7. PubMed ID: 26733147
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  • 4. Determination of serum cholestane-3β,5α,6β-triol by gas chromatography-mass spectrometry for identification of Niemann-Pick type C (NPC) disease.
    Kannenberg F, Nofer JR, Schulte E, Reunert J, Marquardt T, Fobker M.
    J Steroid Biochem Mol Biol; 2017 May; 169():54-60. PubMed ID: 26940355
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  • 8. A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma.
    Jiang X, Sidhu R, Porter FD, Yanjanin NM, Speak AO, te Vruchte DT, Platt FM, Fujiwara H, Scherrer DE, Zhang J, Dietzen DJ, Schaffer JE, Ory DS.
    J Lipid Res; 2011 Jul; 52(7):1435-45. PubMed ID: 21518695
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  • 11. A new simple and rapid LC-ESI-MS/MS method for quantification of plasma oxysterols as dimethylaminobutyrate esters. Its successful use for the diagnosis of Niemann-Pick type C disease.
    Boenzi S, Deodato F, Taurisano R, Martinelli D, Verrigni D, Carrozzo R, Bertini E, Pastore A, Dionisi-Vici C, Johnson DW.
    Clin Chim Acta; 2014 Nov 01; 437():93-100. PubMed ID: 25038260
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  • 12. Selective screening of Niemann-Pick type C Brazilian patients by cholestane-3β,5α,6β-triol and chitotriosidase measurements followed by filipin staining and NPC1/NPC2 gene analysis.
    Ribas GS, Souza HM, de Mari J, Deon M, Mescka C, Saraiva-Pereira ML, Kessler R, Trapp F, Michelin K, Burin M, Vargas CR, Giugliani R.
    Clin Chim Acta; 2016 Aug 01; 459():57-62. PubMed ID: 27234403
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  • 13. Metabolism of Non-Enzymatically Derived Oxysterols: Clues from sterol metabolic disorders.
    Griffiths WJ, Yutuc E, Abdel-Khalik J, Crick PJ, Hearn T, Dickson A, Bigger BW, Hoi-Yee Wu T, Goenka A, Ghosh A, Jones SA, Covey DF, Ory DS, Wang Y.
    Free Radic Biol Med; 2019 Nov 20; 144():124-133. PubMed ID: 31009661
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  • 15. Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype.
    Reunert J, Lotz-Havla AS, Polo G, Kannenberg F, Fobker M, Griese M, Mengel E, Muntau AC, Schnabel P, Sommerburg O, Borggraefe I, Dardis A, Burlina AP, Mall MA, Ciana G, Bembi B, Burlina AB, Marquardt T.
    JIMD Rep; 2015 Nov 20; 23():17-26. PubMed ID: 25772320
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  • 17. Unravelling new pathways of sterol metabolism: lessons learned from in-born errors and cancer.
    Wang Y, Griffiths WJ.
    Curr Opin Clin Nutr Metab Care; 2018 Mar 20; 21(2):90-96. PubMed ID: 29227331
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  • 18. Development of a bile acid-based newborn screen for Niemann-Pick disease type C.
    Jiang X, Sidhu R, Mydock-McGrane L, Hsu FF, Covey DF, Scherrer DE, Earley B, Gale SE, Farhat NY, Porter FD, Dietzen DJ, Orsini JJ, Berry-Kravis E, Zhang X, Reunert J, Marquardt T, Runz H, Giugliani R, Schaffer JE, Ory DS.
    Sci Transl Med; 2016 May 04; 8(337):337ra63. PubMed ID: 27147587
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  • 20. Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature.
    Voorink-Moret M, Goorden SMI, van Kuilenburg ABP, Wijburg FA, Ghauharali-van der Vlugt JMM, Beers-Stet FS, Zoetekouw A, Kulik W, Hollak CEM, Vaz FM.
    Mol Genet Metab; 2018 Feb 04; 123(2):76-84. PubMed ID: 29290526
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