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Journal Abstract Search

201 related items for PubMed ID: 26940355

  • 1. 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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  • 2. 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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  • 3. 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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  • 4. 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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  • 5. 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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  • 7. 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 01; 66():18-23. PubMed ID: 29197565
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  • 9. 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. 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 Jul 01; 23():17-26. PubMed ID: 25772320
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  • 13. 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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  • 16. Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1.
    Sidhu R, Kell P, Dietzen DJ, Farhat NY, Do AND, Porter FD, Berry-Kravis E, Reunert J, Marquardt T, Giugliani R, Lourenço CM, Wang RY, Movsesyan N, Plummer E, Schaffer JE, Ory DS, Jiang X.
    Mol Genet Metab; 2020 Dec 23; 131(4):405-417. PubMed ID: 33257258
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  • 20. Comprehensive Evaluation of Plasma 7-Ketocholesterol and Cholestan-3β,5α,6β-Triol in an Italian Cohort of Patients Affected by Niemann-Pick Disease due to NPC1 and SMPD1 Mutations.
    Romanello M, Zampieri S, Bortolotti N, Deroma L, Sechi A, Fiumara A, Parini R, Borroni B, Brancati F, Bruni A, Russo CV, Bordugo A, Bembi B, Dardis A.
    Clin Chim Acta; 2016 Apr 01; 455():39-45. PubMed ID: 26790753
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