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 *

380 related articles for article (PubMed ID: 28259515)

  • 41. CCL18 as an alternative marker in Gaucher and Niemann-Pick disease with chitotriosidase deficiency.
    Chang KL; Hwu WL; Yeh HY; Lee NC; Chien YH
    Blood Cells Mol Dis; 2010 Jan; 44(1):38-40. PubMed ID: 19819171
    [No Abstract]   [Full Text] [Related]  

  • 42. A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease.
    Giese AK; Mascher H; Grittner U; Eichler S; Kramp G; Lukas J; te Vruchte D; Al Eisa N; Cortina-Borja M; Porter FD; Platt FM; Rolfs A
    Orphanet J Rare Dis; 2015 Jun; 10():78. PubMed ID: 26082315
    [TBL] [Abstract][Full Text] [Related]  

  • 43. [Acid sphingomyelinase deficiency (Niemann-Pick disease type B) in adulthood: A retrospective multicentric study of 28 adult cases].
    Lidove O; Belmatoug N; Froissart R; Lavigne C; Durieu I; Mazodier K; Serratrice C; Douillard C; Goizet C; Cathebras P; Besson G; Amoura Z; Tazi A; Gatfossé M; Rivière S; Sené T; Vanier MT; Ziza JM
    Rev Med Interne; 2017 May; 38(5):291-299. PubMed ID: 27884455
    [TBL] [Abstract][Full Text] [Related]  

  • 44. 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]  

  • 45. Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature.
    Voorink-Moret M; Goorden SMI; van Kuilenburg ABP; Wijburg FA; Ghauharali-van der Vlugt JMM; Beers-Stet FS; Zoetekouw A; Kulik W; Hollak CEM; Vaz FM
    Mol Genet Metab; 2018 Feb; 123(2):76-84. PubMed ID: 29290526
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Biomarker analysis of Niemann-Pick disease type C using chromatography and mass spectrometry.
    Maekawa M; Iwahori A; Mano N
    J Pharm Biomed Anal; 2020 Nov; 191():113622. PubMed ID: 32998104
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Combined Emphysema and Interstitial Lung Disease as a Rare Presentation of Pulmonary Involvement in a Patient with Chronic Visceral Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Type B).
    Opoka L; Wyrostkiewicz D; Radwan-Rohrenschef P; Roży A; Tylki-Szymańska A; Tomkowski W; Szturmowicz M
    Am J Case Rep; 2020 Aug; 21():e923394. PubMed ID: 32759889
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Diagnostic value of plasma lysosphingolipids levels in a Niemann-Pick disease type C patient with transient neonatal cholestasis.
    Bulut FD; Bozbulut NE; Özalp Ö; Dalgiç B; Mungan NÖ; Koç Uçar H; Biberoğlu G
    J Pediatr Endocrinol Metab; 2022 May; 35(5):681-685. PubMed ID: 35107903
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Analysis of Metabolic Changes in Endogenous Metabolites and Diagnostic Biomarkers for Various Diseases Using Liquid Chromatography and Mass Spectrometry.
    Maekawa M
    Biol Pharm Bull; 2024; 47(6):1087-1105. PubMed ID: 38825462
    [TBL] [Abstract][Full Text] [Related]  

  • 50. R542X mutation in SMPD1 gene: genetically novel mutation with phenotypic features intermediate between type A and type B Niemann-Pick disease.
    Aneja A; Sharma A; Dalal A; Sondhi V
    BMJ Case Rep; 2012 Nov; 2012():. PubMed ID: 23188845
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Diagnostic performance evaluation of sulfate-conjugated cholesterol metabolites as urinary biomarkers of Niemann-Pick disease type C.
    Maekawa M; Narita A; Jinnoh I; Iida T; Marquardt T; Mengel E; Eto Y; Clayton PT; Yamaguchi H; Mano N
    Clin Chim Acta; 2019 Jul; 494():58-63. PubMed ID: 30876856
    [TBL] [Abstract][Full Text] [Related]  

  • 52. [Niemann-Pick diseases in adults].
    Sedel F
    Rev Med Interne; 2007 Dec; 28 Suppl 4():S292-3. PubMed ID: 17961863
    [No Abstract]   [Full Text] [Related]  

  • 53. Novel mutations in the SMPD1 gene in Jordanian children with Acid sphingomyelinase deficiency (Niemann-Pick types A and B).
    Al-Eitan L; Alqa'qa' K; Amayreh W; Aljamal H; Khasawneh R; Al-Zoubi B; Okour I; Haddad A; Haddad Y; Haddad H
    Gene; 2020 Jul; 747():144683. PubMed ID: 32311413
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Atherogenic lipid profile in patients with Niemann-Pick disease type B: What treatment strategies?
    Maines E; Franceschi R; Rizzardi C; Deodato F; Piccoli G; Gragnaniello V; Burlina A; Soffiati M
    J Clin Lipidol; 2022; 16(2):143-154. PubMed ID: 35181260
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency.
    Di Rocco M; Vici CD; Burlina A; Venturelli F; Fiumara A; Fecarotta S; Donati MA; Spada M; Concolino D; Pession A
    Orphanet J Rare Dis; 2023 Jul; 18(1):197. PubMed ID: 37480063
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Metabolic Alteration Analysis of Steroid Hormones in Niemann-Pick Disease Type C Model Cell Using Liquid Chromatography/Tandem Mass Spectrometry.
    Abe A; Maekawa M; Sato T; Sato Y; Kumondai M; Takahashi H; Kikuchi M; Higaki K; Ogura J; Mano N
    Int J Mol Sci; 2022 Apr; 23(8):. PubMed ID: 35457276
    [TBL] [Abstract][Full Text] [Related]  

  • 57. A new fluorimetric enzyme assay for the diagnosis of Niemann-Pick A/B, with specificity of natural sphingomyelinase substrate.
    van Diggelen OP; Voznyi YV; Keulemans JL; Schoonderwoerd K; Ledvinova J; Mengel E; Zschiesche M; Santer R; Harzer K
    J Inherit Metab Dis; 2005; 28(5):733-41. PubMed ID: 16151905
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Analysis of acid sphingomyelinase activity in dried blood spots using tandem mass spectrometry.
    Legnini E; Orsini JJ; Mühl A; Johnson B; Dajnoki A; Bodamer OA
    Ann Lab Med; 2012 Sep; 32(5):319-23. PubMed ID: 22950066
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Standard-flow LC and thermal focusing ESI elucidates altered liver proteins in late stage Niemann-Pick, type C1 disease.
    Pergande MR; Zarate E; Haney-Ball C; Davidson CD; Scesa G; Givogri MI; Bongarzone ER; Cologna SM
    Bioanalysis; 2019 Jun; 11(11):1067-1083. PubMed ID: 31251104
    [No Abstract]   [Full Text] [Related]  

  • 60. Peripheral neuropathy as a very rare symptom in a patient with Niemann-Pick type C with negative enzymatic evaluation: a case report.
    Barzegar M; Valaee F; Ghoreishizadeh S
    J Med Case Rep; 2022 Jan; 16(1):23. PubMed ID: 35016719
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 19.