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Journal Abstract Search

440 related items for PubMed ID: 22133539

  • 1. 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]

  • 2. Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry.
    Elliott S, Buroker N, Cournoyer JJ, Potier AM, Trometer JD, Elbin C, Schermer MJ, Kantola J, Boyce A, Turecek F, Gelb MH, Scott CR.
    Mol Genet Metab; 2016 Aug 28; 118(4):304-9. PubMed ID: 27238910
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. Cut-off values of neonatal lysosomal storage disease-related enzymes detected by tandem mass spectrometry.
    Li G, Tian L, Guo Y, Li Y, Sun M, Zou H.
    Zhejiang Da Xue Xue Bao Yi Xue Ban; 2022 Jun 25; 51(3):321-325. PubMed ID: 35462462
    [Abstract] [Full Text] [Related]

  • 5. Detecting multiple lysosomal storage diseases by tandem mass spectrometry--a national newborn screening program in Taiwan.
    Liao HC, Chiang CC, Niu DM, Wang CH, Kao SM, Tsai FJ, Huang YH, Liu HC, Huang CK, Gao HJ, Yang CF, Chan MJ, Lin WD, Chen YJ.
    Clin Chim Acta; 2014 Apr 20; 431():80-6. PubMed ID: 24513544
    [Abstract] [Full Text] [Related]

  • 6. Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening.
    Li Y, Scott CR, Chamoles NA, Ghavami A, Pinto BM, Turecek F, Gelb MH.
    Clin Chem; 2004 Oct 20; 50(10):1785-96. PubMed ID: 15292070
    [Abstract] [Full Text] [Related]

  • 7. Newborn Screening for Lysosomal Storage Disorders.
    Anderson S.
    J Pediatr Health Care; 2018 Oct 20; 32(3):285-294. PubMed ID: 29678259
    [Abstract] [Full Text] [Related]

  • 8. Gaucher and Niemann-Pick diseases--enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards.
    Chamoles NA, Blanco M, Gaggioli D, Casentini C.
    Clin Chim Acta; 2002 Mar 20; 317(1-2):191-7. PubMed ID: 11814475
    [Abstract] [Full Text] [Related]

  • 9. Simplified newborn screening protocol for lysosomal storage disorders.
    Metz TF, Mechtler TP, Orsini JJ, Martin M, Shushan B, Herman JL, Ratschmann R, Item CB, Streubel B, Herkner KR, Kasper DC.
    Clin Chem; 2011 Sep 20; 57(9):1286-94. PubMed ID: 21771947
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. Reference values for lysosomal enzymes activities using dried blood spots samples - a Brazilian experience.
    Müller KB, Rodrigues MD, Pereira VG, Martins AM, D'Almeida V.
    Diagn Pathol; 2010 Sep 29; 5():65. PubMed ID: 20920262
    [Abstract] [Full Text] [Related]

  • 12. Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy.
    Burlina AB, Polo G, Salviati L, Duro G, Zizzo C, Dardis A, Bembi B, Cazzorla C, Rubert L, Zordan R, Desnick RJ, Burlina AP.
    J Inherit Metab Dis; 2018 Mar 29; 41(2):209-219. PubMed ID: 29143201
    [Abstract] [Full Text] [Related]

  • 13. Development and evaluation of quality control dried blood spot materials in newborn screening for lysosomal storage disorders.
    De Jesus VR, Zhang XK, Keutzer J, Bodamer OA, Mühl A, Orsini JJ, Caggana M, Vogt RF, Hannon WH.
    Clin Chem; 2009 Jan 29; 55(1):158-64. PubMed ID: 18988750
    [Abstract] [Full Text] [Related]

  • 14. Newborn Screening of 6 Lysosomal Storage Disorders by Tandem Mass Spectrometry.
    Chen Y, Yang Y, Zeng Y, Lin Q, Zhao P, Mao B, Qiu X, Huang T, Xu L, Zhu W.
    Clin Pediatr (Phila); 2024 Oct 29; 63(10):1364-1370. PubMed ID: 38135922
    [Abstract] [Full Text] [Related]

  • 15. [Gaucher's and Fabry's diseases: biochemical and genetic aspects].
    Caillaud C, Poenaru L.
    J Soc Biol; 2002 Oct 29; 196(2):135-40. PubMed ID: 12360742
    [Abstract] [Full Text] [Related]

  • 16. Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders.
    Gelb MH, Turecek F, Scott CR, Chamoles NA.
    J Inherit Metab Dis; 2006 Oct 29; 29(2-3):397-404. PubMed ID: 16763908
    [Abstract] [Full Text] [Related]

  • 17. Triplex tandem mass spectrometry assays for the screening of 3 lysosomal storage disorders in a Korean population.
    Cho SE, Kwak JR, Lee H, Seo DH, Song J.
    Clin Chim Acta; 2016 Feb 15; 454():20-7. PubMed ID: 26707915
    [Abstract] [Full Text] [Related]

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  • 20. Importance to include differential diagnostics for acid sphingomyelinase deficiency (ASMD) in patients suspected to have to Gaucher disease.
    Oliva P, Schwarz M, Mechtler TP, Sansen S, Keutzer J, Prusa AR, Streubel B, Kasper DC.
    Mol Genet Metab; 2023 May 15; 139(1):107563. PubMed ID: 37086570
    [Abstract] [Full Text] [Related]

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