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Journal Abstract Search

348 related items for PubMed ID: 28222799

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  • 4. Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study.
    Bauer P, Balding DJ, Klünemann HH, Linden DE, Ory DS, Pineda M, Priller J, Sedel F, Muller A, Chadha-Boreham H, Welford RW, Strasser DS, Patterson MC.
    Hum Mol Genet; 2013 Nov 01; 22(21):4349-56. PubMed ID: 23773996
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  • 5. 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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  • 12. Prospective Turkish Cohort Study to Investigate the Frequency of Niemann-Pick Disease Type C Mutations in Consanguineous Families with at Least One Homozygous Family Member.
    Topçu M, Aktas D, Öztoprak M, Mungan NÖ, Yuce A, Alikasifoglu M.
    Mol Diagn Ther; 2017 Dec 01; 21(6):643-651. PubMed ID: 28808920
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  • 13. Plasma lysosphingomyelin demonstrates great potential as a diagnostic biomarker for Niemann-Pick disease type C in a retrospective study.
    Welford RW, Garzotti M, Marques Lourenço C, Mengel E, Marquardt T, Reunert J, Amraoui Y, Kolb SA, Morand O, Groenen P.
    PLoS One; 2014 Dec 01; 9(12):e114669. PubMed ID: 25479233
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