These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

164 related articles for article (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
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 22(21):4349-56. PubMed ID: 23773996
    [TBL] [Abstract][Full Text] [Related]  

  • 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
    [TBL] [Abstract][Full Text] [Related]  

  • 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
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Adult onset Niemann-Pick type C disease and psychosis: literature review].
    Maubert A; Hanon C; Metton JP
    Encephale; 2013 Oct; 39(5):315-9. PubMed ID: 23928063
    [TBL] [Abstract][Full Text] [Related]  

  • 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;
    J Transl Med; 2017 Feb; 15(1):43. PubMed ID: 28222799
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 20(1):123. PubMed ID: 31296176
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 13(1):175. PubMed ID: 30285904
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Niemann-Pick type C disease and psychosis: Two siblings].
    Maubert A; Hanon C; Metton JP
    Encephale; 2015 Jun; 41(3):238-43. PubMed ID: 25238906
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 9(12):e114669. PubMed ID: 25479233
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 118(4):244-54. PubMed ID: 27339554
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 7():36. PubMed ID: 22676771
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 486():387-394. PubMed ID: 30153451
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Niemann-Pick type C: focus on the adolescent/adult onset form.
    Di Lazzaro V; Marano M; Florio L; De Santis S
    Int J Neurosci; 2016 Nov; 126(11):963-71. PubMed ID: 26998855
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients.
    Zhang H; Wang Y; Lin N; Yang R; Qiu W; Han L; Ye J; Gu X
    Orphanet J Rare Dis; 2014 Jun; 9():82. PubMed ID: 24915861
    [TBL] [Abstract][Full Text] [Related]  

  • 16. LC-MS/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann-Pick diseases.
    Klinke G; Rohrbach M; Giugliani R; Burda P; Baumgartner MR; Tran C; Gautschi M; Mathis D; Hersberger M
    Clin Biochem; 2015 Jun; 48(9):596-602. PubMed ID: 25819840
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 34(5):1253-1260. PubMed ID: 31197681
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Probable Miglustat-Induced Psychosis in a Child With Niemann-Pick Type C.
    Koç Yekedüz M; Öncül Ü; Köse E; Eminoğlu FT
    Clin Neuropharmacol; 2022 Jul-Aug 01; 45(4):107-109. PubMed ID: 35696615
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 75(3-4):113-23. PubMed ID: 26910362
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 18(1):75-8. PubMed ID: 24119781
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.