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 *

809 related articles for article (PubMed ID: 25238906)

  • 21. Niemann-Pick disease type C.
    Vanier MT
    Orphanet J Rare Dis; 2010 Jun; 5():16. PubMed ID: 20525256
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder?
    Dvorakova L; Sikora J; Hrebicek M; Hulkova H; Bouckova M; Stolnaja L; Elleder M
    J Inherit Metab Dis; 2006 Aug; 29(4):591. PubMed ID: 16802107
    [TBL] [Abstract][Full Text] [Related]  

  • 23. [Presentation of Niemann-Pick type C disease with psychiatric disturbance in an adult].
    Tyvaert L; Stojkovic T; Cuisset JM; Vanier MT; Turpin JC; De Sèze J; Vermersch P
    Rev Neurol (Paris); 2005 Mar; 161(3):318-22. PubMed ID: 15800453
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Familial Alzheimer's disease associated with heterozygous
    Lopergolo D; Bianchi S; Gallus GN; Locci S; Pucci B; Leoni V; Gasparini D; Tardelli E; Chincarini A; Sestini S; Santorelli FM; Zetterberg H; De Stefano N; Mignarri A
    J Med Genet; 2024 Mar; 61(4):332-339. PubMed ID: 37989569
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.
    Sun X; Marks DL; Park WD; Wheatley CL; Puri V; O'Brien JF; Kraft DL; Lundquist PA; Patterson MC; Pagano RE; Snow K
    Am J Hum Genet; 2001 Jun; 68(6):1361-72. PubMed ID: 11349231
    [TBL] [Abstract][Full Text] [Related]  

  • 26. [Research advances in diagnosis and therapy of Niemann-Pick disease type C].
    Ren SC; Gao BQ
    Zhongguo Dang Dai Er Ke Za Zhi; 2015 May; 17(5):533-8. PubMed ID: 26014711
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.
    Park WD; O'Brien JF; Lundquist PA; Kraft DL; Vockley CW; Karnes PS; Patterson MC; Snow K
    Hum Mutat; 2003 Oct; 22(4):313-25. PubMed ID: 12955717
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2.
    Verot L; Chikh K; Freydière E; Honoré R; Vanier MT; Millat G
    Clin Genet; 2007 Apr; 71(4):320-30. PubMed ID: 17470133
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Mutations in Niemann Pick type C gene are risk factor for Alzheimer's disease.
    Kresojević N; Dobričić V; Svetel M; Kostić V
    Med Hypotheses; 2014 Nov; 83(5):559-62. PubMed ID: 25220527
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Heterogeneity and frequency of movement disorders in juvenile and adult-onset Niemann-Pick C disease.
    Anheim M; Lagha-Boukbiza O; Fleury-Lesaunier MC; Valenti-Hirsch MP; Hirsch E; Gervais-Bernard H; Broussolle E; Thobois S; Vanier MT; Latour P; Tranchant C
    J Neurol; 2014 Jan; 261(1):174-9. PubMed ID: 24178705
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database.
    Imrie J; Heptinstall L; Knight S; Strong K
    BMC Neurol; 2015 Dec; 15():257. PubMed ID: 26666848
    [TBL] [Abstract][Full Text] [Related]  

  • 33. High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets.
    Wassif CA; Cross JL; Iben J; Sanchez-Pulido L; Cougnoux A; Platt FM; Ory DS; Ponting CP; Bailey-Wilson JE; Biesecker LG; Porter FD
    Genet Med; 2016 Jan; 18(1):41-8. PubMed ID: 25764212
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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]  

  • 35. Loss of NPC1 function in a patient with a co-inherited novel insulin receptor mutation does not grossly modify the severity of the associated insulin resistance.
    Kirk J; Porter KM; Parker V; Barroso I; O'Rahilly S; Hendriksz C; Semple RK
    J Inherit Metab Dis; 2010 Dec; 33 Suppl 3(Suppl 3):S227-32. PubMed ID: 20521171
    [TBL] [Abstract][Full Text] [Related]  

  • 36. [Niemann-Pick type C disease: clinical presentations in pediatric patients].
    Héron B; Ogier H
    Arch Pediatr; 2010 Jun; 17 Suppl 2():S45-9. PubMed ID: 20620895
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Systematic review of psychiatric signs in Niemann-Pick disease type C.
    Bonnot O; Klünemann HH; Velten C; Torres Martin JV; Walterfang M
    World J Biol Psychiatry; 2019 Apr; 20(4):320-332. PubMed ID: 29457916
    [No Abstract]   [Full Text] [Related]  

  • 38. Niemann-Pick disease type C: analysis of 7 patients.
    Xiong H; Bao XH; Zhang YH; Xu YN; Qin J; Shi HP; Wu XR
    World J Pediatr; 2012 Feb; 8(1):61-6. PubMed ID: 21633862
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Niemann-Pick disease type C in the newborn period: a single-center experience.
    Gumus E; Haliloglu G; Karhan AN; Demir H; Gurakan F; Topcu M; Yuce A
    Eur J Pediatr; 2017 Dec; 176(12):1669-1676. PubMed ID: 28951965
    [TBL] [Abstract][Full Text] [Related]  

  • 40.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 41.