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Journal Abstract Search

304 related items for PubMed ID: 29197565

  • 1. 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; 66():18-23. PubMed ID: 29197565
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  • 2. 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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  • 3. 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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  • 4. 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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  • 5. 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 11; 130(1):77-86. PubMed ID: 32178982
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  • 6. 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 11; 57(3):361-7. PubMed ID: 26733147
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  • 7. 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 11; 169():54-60. PubMed ID: 26940355
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  • 8. 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 11; 56(10):1926-35. PubMed ID: 26239048
    [Abstract] [Full Text] [Related]

  • 9. 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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  • 12. Molecular profile and peripheral markers of neurodegeneration in patients with Niemann-Pick type C: Decrease in Plasminogen Activator Inhibitor type 1 and Platelet-Derived Growth Factor type AA.
    Hammerschmidt TG, Encarnação M, Lamberty Faverzani J, de Fátima Lopes F, Poswar de Oliveira F, Fischinger Moura de Sousa C, Ribeiro I, Alves S, Giugliani R, Regla Vargas C.
    Arch Biochem Biophys; 2023 Feb 01; 735():109510. PubMed ID: 36608914
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  • 13. 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 Feb 01; 23():17-26. PubMed ID: 25772320
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  • 15. Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect.
    Nadjar Y, Hütter-Moncada AL, Latour P, Ayrignac X, Kaphan E, Tranchant C, Cintas P, Degardin A, Goizet C, Laurencin C, Martzolff L, Tilikete C, Anheim M, Audoin B, Deramecourt V, De Gaillarbois TD, Roze E, Lamari F, Vanier MT, Héron B.
    Orphanet J Rare Dis; 2018 Oct 01; 13(1):175. PubMed ID: 30285904
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  • 16. Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study.
    Mengel E, Bembi B, Del Toro M, Deodato F, Gautschi M, Grunewald S, Grønborg S, Héron B, Maier EM, Roubertie A, Santra S, Tylki-Szymanska A, Day S, Symonds T, Hudgens S, Patterson MC, Guldberg C, Ingemann L, Petersen NHT, Kirkegaard T, Í Dali C.
    Orphanet J Rare Dis; 2020 Nov 23; 15(1):328. PubMed ID: 33228797
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