BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

381 related articles for article (PubMed ID: 28259515)

  • 1. Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases.
    Kuchar L; Sikora J; Gulinello ME; Poupetova H; Lugowska A; Malinova V; Jahnova H; Asfaw B; Ledvinova J
    Anal Biochem; 2017 May; 525():73-77. PubMed ID: 28259515
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency.
    Kubaski F; Burlina A; Pereira D; Silva C; Herbst ZM; Trapp FB; Michelin-Tirelli K; Lopes FF; Burin MG; Brusius-Facchin AC; Netto ABO; Poletto E; Bernardes TM; Carvalho GS; Sorte NB; Ferreira FN; Perin N; Clivati MR; de Santana MTS; Lobos SFG; Leão EKEA; Coutinho MP; Pinos PV; Santos MLSF; Penatti DA; Lourenço CM; Polo G; Giugliani R
    Orphanet J Rare Dis; 2022 Nov; 17(1):407. PubMed ID: 36348386
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. A combination of 7-ketocholesterol, lysosphingomyelin and bile acid-408 to diagnose Niemann-Pick disease type C using LC-MS/MS.
    Wu C; Iwamoto T; Hossain MA; Akiyama K; Igarashi J; Miyajima T; Eto Y
    PLoS One; 2020; 15(9):e0238624. PubMed ID: 32898135
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Lyso-sphingomyelin is elevated in dried blood spots of Niemann-Pick B patients.
    Chuang WL; Pacheco J; Cooper S; McGovern MM; Cox GF; Keutzer J; Zhang XK
    Mol Genet Metab; 2014 Feb; 111(2):209-11. PubMed ID: 24418695
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Glycoprotein non-metastatic protein B (GPNMB) plasma values in patients with chronic visceral acid sphingomyelinase deficiency.
    Eskes ECB; van der Lienden MJC; Sjouke B; van Vliet L; Brands MMMG; Hollak CEM; Aerts JMFG
    Mol Genet Metab; 2023 Aug; 139(4):107631. PubMed ID: 37453187
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Structural Determination of Lysosphingomyelin-509 and Discovery of Novel Class Lipids from Patients with Niemann-Pick Disease Type C.
    Maekawa M; Jinnoh I; Matsumoto Y; Narita A; Mashima R; Takahashi H; Iwahori A; Saigusa D; Fujii K; Abe A; Higaki K; Yamauchi S; Ozeki Y; Shimoda K; Tomioka Y; Okuyama T; Eto Y; Ohno K; T Clayton P; Yamaguchi H; Mano N
    Int J Mol Sci; 2019 Oct; 20(20):. PubMed ID: 31658747
    [TBL] [Abstract][Full Text] [Related]  

  • 9. LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease.
    Pettazzoni M; Froissart R; Pagan C; Vanier MT; Ruet S; Latour P; Guffon N; Fouilhoux A; Germain DP; Levade T; Vianey-Saban C; Piraud M; Cheillan D
    PLoS One; 2017; 12(7):e0181700. PubMed ID: 28749998
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up.
    Lipiński P; Kuchar L; Zakharova EY; Baydakova GV; Ługowska A; Tylki-Szymańska A
    Orphanet J Rare Dis; 2019 Feb; 14(1):55. PubMed ID: 30795770
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers.
    Eskes ECB; Sjouke B; Vaz FM; Goorden SMI; van Kuilenburg ABP; Aerts JMFG; Hollak CEM
    Mol Genet Metab; 2020 May; 130(1):16-26. PubMed ID: 32088119
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Diagnosis of niemann-pick C1 by measurement of bile acid biomarkers in archived newborn dried blood spots.
    Jiang X; Sidhu R; Orsini JJ; Farhat NY; Porter FD; Berry-Kravis E; Schaffer JE; Ory DS
    Mol Genet Metab; 2019 Feb; 126(2):183-187. PubMed ID: 30172462
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 54(7):1221-9. PubMed ID: 26650075
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Plasma and dried blood spot lysosphingolipids for the diagnosis of different sphingolipidoses: a comparative study.
    Polo G; Burlina AP; Ranieri E; Colucci F; Rubert L; Pascarella A; Duro G; Tummolo A; Padoan A; Plebani M; Burlina AB
    Clin Chem Lab Med; 2019 Nov; 57(12):1863-1874. PubMed ID: 31091195
    [TBL] [Abstract][Full Text] [Related]  

  • 16. LC/ESI-MS/MS analysis of urinary 3β-sulfooxy-7β-N-acetylglucosaminyl-5-cholen-24-oic acid and its amides: new biomarkers for the detection of Niemann-Pick type C disease.
    Maekawa M; Misawa Y; Sotoura A; Yamaguchi H; Togawa M; Ohno K; Nittono H; Kakiyama G; Iida T; Hofmann AF; Goto J; Shimada M; Mano N
    Steroids; 2013 Oct; 78(10):967-72. PubMed ID: 23751200
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Development of a Diagnostic Screening Strategy for Niemann-Pick Diseases Based on Simultaneous Liquid Chromatography-Tandem Mass Spectrometry Analyses of N-Palmitoyl-O-phosphocholine-serine and Sphingosylphosphorylcholine.
    Iwahori A; Maekawa M; Narita A; Kato A; Sato T; Ogura J; Sato Y; Kikuchi M; Noguchi A; Higaki K; Okuyama T; Takahashi T; Eto Y; Mano N
    Biol Pharm Bull; 2020 Sep; 43(9):1398-1406. PubMed ID: 32581190
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C.
    Ries M; Schaefer E; Lührs T; Mani L; Kuhn J; Vanier MT; Krummenauer F; Gal A; Beck M; Mengel E
    J Inherit Metab Dis; 2006 Oct; 29(5):647-52. PubMed ID: 16972172
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Focused metabolomics using liquid chromatography/electrospray ionization tandem mass spectrometry for analysis of urinary conjugated cholesterol metabolites from patients with Niemann-Pick disease type C and 3β-hydroxysteroid dehydrogenase deficiency.
    Maekawa M; Shimada M; Ohno K; Togawa M; Nittono H; Iida T; Hofmann AF; Goto J; Yamaguchi H; Mano N
    Ann Clin Biochem; 2015 Sep; 52(Pt 5):576-87. PubMed ID: 25575700
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Sphingosylphosphorylcholine in Niemann-Pick disease brain: accumulation in type A but not in type B.
    Rodriguez-Lafrasse C; Vanier MT
    Neurochem Res; 1999 Feb; 24(2):199-205. PubMed ID: 9972865
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 20.