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Journal Abstract Search

376 related items for PubMed ID: 29290526

  • 21. 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
    [Abstract] [Full Text] [Related]

  • 22. Chitotriosidase activity as additional biomarker in the diagnosis of lysosomal storage diseases.
    Olkhovych NV.
    Ukr Biochem J; 2016 Oct; 88(1):69-78. PubMed ID: 29227082
    [Abstract] [Full Text] [Related]

  • 23. 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
    [Abstract] [Full Text] [Related]

  • 24. [Comparison and clinical application of two methods for determination of plasma chitotriosidase activity].
    Wang Y, Zhang HW, Ye J, Qiu WJ, Han LS, Gu XF.
    Zhonghua Er Ke Za Zhi; 2012 Nov 21; 50(11):834-8. PubMed ID: 23302614
    [Abstract] [Full Text] [Related]

  • 25. Cholestane-3β,5α,6β-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency.
    Pajares S, Arias A, García-Villoria J, Macías-Vidal J, Ros E, de las Heras J, Girós M, Coll MJ, Ribes A.
    J Lipid Res; 2015 Oct 21; 56(10):1926-35. PubMed ID: 26239048
    [Abstract] [Full Text] [Related]

  • 26. A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma.
    Jiang X, Sidhu R, Porter FD, Yanjanin NM, Speak AO, te Vruchte DT, Platt FM, Fujiwara H, Scherrer DE, Zhang J, Dietzen DJ, Schaffer JE, Ory DS.
    J Lipid Res; 2011 Jul 21; 52(7):1435-45. PubMed ID: 21518695
    [Abstract] [Full Text] [Related]

  • 27. Lysosomal storage disorders. Diagnosis by ultrastructural examination of skin biopsy specimens.
    O'Brien JS, Bernett J, Veath ML, Paa D.
    Arch Neurol; 1975 Sep 21; 32(9):592-9. PubMed ID: 809024
    [Abstract] [Full Text] [Related]

  • 28. A new simple and rapid LC-ESI-MS/MS method for quantification of plasma oxysterols as dimethylaminobutyrate esters. Its successful use for the diagnosis of Niemann-Pick type C disease.
    Boenzi S, Deodato F, Taurisano R, Martinelli D, Verrigni D, Carrozzo R, Bertini E, Pastore A, Dionisi-Vici C, Johnson DW.
    Clin Chim Acta; 2014 Nov 01; 437():93-100. PubMed ID: 25038260
    [Abstract] [Full Text] [Related]

  • 29. 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 01; 139(4):107631. PubMed ID: 37453187
    [Abstract] [Full Text] [Related]

  • 30. Heritable catabolic and anabolic disorders of lipid metabolism.
    Brady RO.
    Metabolism; 1977 Mar 01; 26(3):329-45. PubMed ID: 13262
    [Abstract] [Full Text] [Related]

  • 31. Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype.
    Reunert J, Lotz-Havla AS, Polo G, Kannenberg F, Fobker M, Griese M, Mengel E, Muntau AC, Schnabel P, Sommerburg O, Borggraefe I, Dardis A, Burlina AP, Mall MA, Ciana G, Bembi B, Burlina AB, Marquardt T.
    JIMD Rep; 2015 Mar 01; 23():17-26. PubMed ID: 25772320
    [Abstract] [Full Text] [Related]

  • 32. Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria.
    Mechtler TP, Stary S, Metz TF, De Jesús VR, Greber-Platzer S, Pollak A, Herkner KR, Streubel B, Kasper DC.
    Lancet; 2012 Jan 28; 379(9813):335-41. PubMed ID: 22133539
    [Abstract] [Full Text] [Related]

  • 33. 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 Jan 28; 15(9):e0238624. PubMed ID: 32898135
    [Abstract] [Full Text] [Related]

  • 34. Quantitative evaluation of sphingomyelin and glucosylceramide using matrix-assisted laser desorption ionization time-of-flight mass spectrometry with sphingosylphosphorylcholine as an internal standard. Practical application to tissues from patients with Niemann-Pick disease types A and C, and Gaucher disease.
    Fujiwaki T, Tasaka M, Yamaguchi S.
    J Chromatogr B Analyt Technol Biomed Life Sci; 2008 Jul 15; 870(2):170-6. PubMed ID: 18502707
    [Abstract] [Full Text] [Related]

  • 35. Lysosomal storage disorder 4+1 multiplex assay for newborn screening using tandem mass spectrometry: application to a small-scale population study for five lysosomal storage disorders.
    Orsini JJ, Martin MM, Showers AL, Bodamer OA, Zhang XK, Gelb MH, Caggana M.
    Clin Chim Acta; 2012 Aug 16; 413(15-16):1270-3. PubMed ID: 22548856
    [Abstract] [Full Text] [Related]

  • 36. Newborn Screening for Lysosomal Storage Disorders.
    Anderson S.
    J Pediatr Health Care; 2018 Aug 16; 32(3):285-294. PubMed ID: 29678259
    [Abstract] [Full Text] [Related]

  • 37. 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 16; 118(4):244-54. PubMed ID: 27339554
    [Abstract] [Full Text] [Related]

  • 38. 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 21; 18(1):197. PubMed ID: 37480063
    [Abstract] [Full Text] [Related]

  • 39. Newborn screening for lysosomal storage disorders.
    Nakamura K, Hattori K, Endo F.
    Am J Med Genet C Semin Med Genet; 2011 Feb 15; 157C(1):63-71. PubMed ID: 21312327
    [Abstract] [Full Text] [Related]

  • 40.
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