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Journal Abstract Search

159 related items for PubMed ID: 32592146

  • 1. High diagnostic value of plasma Niemann-Pick type C biomarkers in adults with selected neurological and/or psychiatric disorders.
    Mandia D, Plaze M, Le Ber I, Ewenczyk C, Morin A, Carle G, Consoli A, Degardin A, Amad A, Moreau C, Anheim M, Tranchant C, Mélé N, Roue-Jagot C, Lagarde J, Sarazin M, Hamelin L, Ellul P, Pagan C, Pettazzoni M, Bekri S, Belliard S, Goizet C, Wallon D, Lamari F, Nadjar Y.
    J Neurol; 2020 Nov; 267(11):3371-3377. PubMed ID: 32592146
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  • 3. 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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  • 4. 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; 4():170-5. PubMed ID: 26981555
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  • 6. Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study.
    De Castro-Orós I, Irún P, Cebolla JJ, Rodriguez-Sureda V, Mallén M, Pueyo MJ, Mozas P, Dominguez C, Pocoví M, Spanish NP-C Group.
    J Transl Med; 2017 Feb 21; 15(1):43. PubMed ID: 28222799
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  • 12. Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C.
    Héron B, Valayannopoulos V, Baruteau J, Chabrol B, Ogier H, Latour P, Dobbelaere D, Eyer D, Labarthe F, Maurey H, Cuisset JM, de Villemeur TB, Sedel F, Vanier MT.
    Orphanet J Rare Dis; 2012 Jun 07; 7():36. PubMed ID: 22676771
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  • 13. The impact of biomarkers analysis in the diagnosis of Niemann-Pick C disease and acid sphingomyelinase deficiency.
    Deodato F, Boenzi S, Taurisano R, Semeraro M, Sacchetti E, Carrozzo R, Dionisi-Vici C.
    Clin Chim Acta; 2018 Nov 07; 486():387-394. PubMed ID: 30153451
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  • 19. Clinical Spectrum and Genetic Variability in Bulgarian Patients with Niemann-Pick Disease Type C.
    Chamova T, Kirov A, Guergueltcheva V, Todorov T, Bojinova V, Zhelyazkova S, Samuel J, Radionova M, Sarafov S, Cherninkova S, Krastev S, Todorova A, Tournev I.
    Eur Neurol; 2016 Nov 07; 75(3-4):113-23. PubMed ID: 26910362
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  • 20. Complete recovery from psychosis upon miglustat treatment in a juvenile Niemann-Pick C patient.
    Szakszon K, Szegedi I, Magyar A, Oláh E, Andrejkovics M, Balla P, Lengyel A, Berényi E, Balogh I.
    Eur J Paediatr Neurol; 2014 Jan 07; 18(1):75-8. PubMed ID: 24119781
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