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Journal Abstract Search

226 related items for PubMed ID: 27147587

  • 1. 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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  • 5. High level of oxysterols in neonatal cholestasis: a pitfall in analysis of biochemical markers for Niemann-Pick type C disease.
    Polo G, Burlina A, Furlan F, Kolamunnage T, Cananzi M, Giordano L, Zaninotto M, Plebani M, Burlina A.
    Clin Chem Lab Med; 2016 Jul 01; 54(7):1221-9. PubMed ID: 26650075
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  • 6. 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 01; 130(1):77-86. PubMed ID: 32178982
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  • 7. Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease.
    Mazzacuva F, Mills P, Mills K, Camuzeaux S, Gissen P, Nicoli ER, Wassif C, Te Vruchte D, Porter FD, Maekawa M, Mano N, Iida T, Platt F, Clayton PT.
    FEBS Lett; 2016 Jun 01; 590(11):1651-62. PubMed ID: 27139891
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  • 8. A combination of 7-ketocholesterol, lysosphingomyelin and bile acid-408 to diagnose Niemann-Pick disease type C using LC-MS/MS.
    Wu C, Iwamoto T, Hossain MA, Akiyama K, Igarashi J, Miyajima T, Eto Y.
    PLoS One; 2020 Jun 01; 15(9):e0238624. PubMed ID: 32898135
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  • 9. Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening.
    Reunert J, Fobker M, Kannenberg F, Du Chesne I, Plate M, Wellhausen J, Rust S, Marquardt T.
    EBioMedicine; 2016 Feb 01; 4():170-5. PubMed ID: 26981555
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  • 10. 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 01; 52(7):1435-45. PubMed ID: 21518695
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  • 11. Oxysterol/chitotriosidase based selective screening for Niemann-Pick type C in infantile cholestasis syndrome patients.
    Degtyareva AV, Proshlyakova TY, Gautier MS, Degtyarev DN, Kamenets EA, Baydakova GV, Rebrikov DV, Zakharova EY.
    BMC Med Genet; 2019 Jul 11; 20(1):123. PubMed ID: 31296176
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  • 14. Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review.
    Vanier MT, Gissen P, Bauer P, Coll MJ, Burlina A, Hendriksz CJ, Latour P, Goizet C, Welford RW, Marquardt T, Kolb SA.
    Mol Genet Metab; 2016 Aug 11; 118(4):244-54. PubMed ID: 27339554
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  • 15. Molecular and biochemical biomarkers for diagnosis and therapy monitorization of Niemann-Pick type C patients.
    Hammerschmidt TG, de Oliveira Schmitt Ribas G, Saraiva-Pereira ML, Bonatto MP, Kessler RG, Souza FTS, Trapp F, Michelin-Tirelli K, Burin MG, Giugliani R, Vargas CR.
    Int J Dev Neurosci; 2018 May 11; 66():18-23. PubMed ID: 29197565
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  • 16. LC/ESI-MS/MS analysis of urinary 3β-sulfooxy-7β-N-acetylglucosaminyl-5-cholen-24-oic acid and its amides: new biomarkers for the detection of Niemann-Pick type C disease.
    Maekawa M, Misawa Y, Sotoura A, Yamaguchi H, Togawa M, Ohno K, Nittono H, Kakiyama G, Iida T, Hofmann AF, Goto J, Shimada M, Mano N.
    Steroids; 2013 Oct 11; 78(10):967-72. PubMed ID: 23751200
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  • 17. Laboratory diagnosis of the Niemann-Pick type C disease: an inherited neurodegenerative disorder of cholesterol metabolism.
    Sitarska D, Ługowska A.
    Metab Brain Dis; 2019 Oct 11; 34(5):1253-1260. PubMed ID: 31197681
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  • 19. A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease.
    Giese AK, Mascher H, Grittner U, Eichler S, Kramp G, Lukas J, te Vruchte D, Al Eisa N, Cortina-Borja M, Porter FD, Platt FM, Rolfs A.
    Orphanet J Rare Dis; 2015 Jun 17; 10():78. PubMed ID: 26082315
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