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Journal Abstract Search

203 related items for PubMed ID: 20338160

  • 1. Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry.
    Dajnoki A, Fekete G, Keutzer J, Orsini JJ, De Jesus VR, Chien YH, Hwu WL, Lukacs Z, Mühl A, Zhang XK, Bodamer O.
    Clin Chim Acta; 2010 Oct 09; 411(19-20):1428-31. PubMed ID: 20338160
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  • 2. Diagnosing lysosomal storage disorders: Fabry disease.
    Bodamer OA, Johnson B, Dajnoki A.
    Curr Protoc Hum Genet; 2013 Oct 09; Chapter 17():Unit17.13. PubMed ID: 23595598
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  • 3. 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 09; 118(4):304-9. PubMed ID: 27238910
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  • 4. 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
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  • 6. Newborn screening for Pompe disease by measuring acid alpha-glucosidase activity using tandem mass spectrometry.
    Dajnoki A, Mühl A, Fekete G, Keutzer J, Orsini J, Dejesus V, Zhang XK, Bodamer OA.
    Clin Chem; 2008 Oct 20; 54(10):1624-9. PubMed ID: 18703766
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  • 14. Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I.
    Magera MJ, Gunawardena ND, Hahn SH, Tortorelli S, Mitchell GA, Goodman SI, Rinaldo P, Matern D.
    Mol Genet Metab; 2006 May 20; 88(1):16-21. PubMed ID: 16448836
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  • 16. Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience.
    Gragnaniello V, Burlina AP, Polo G, Giuliani A, Salviati L, Duro G, Cazzorla C, Rubert L, Maines E, Germain DP, Burlina AB.
    Biomolecules; 2021 Jun 27; 11(7):. PubMed ID: 34199132
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  • 20. Implementation of newborn screening for Krabbe disease: population study and cutoff determination.
    Orsini JJ, Morrissey MA, Slavin LN, Wojcik M, Biski C, Martin M, Keutzer J, Zhang XK, Chuang WL, Elbin C, Caggana M.
    Clin Biochem; 2009 Jun 27; 42(9):877-84. PubMed ID: 19318021
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