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Journal Abstract Search

252 related items for PubMed ID: 18703766

  • 1. 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; 54(10):1624-9. PubMed ID: 18703766
    [Abstract] [Full Text] [Related]

  • 2. Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease.
    Lin N, Huang J, Violante S, Orsini JJ, Caggana M, Hughes EE, Stevens C, DiAntonio L, Chieh Liao H, Hong X, Ghomashchi F, Babu Kumar A, Zhou H, Kornreich R, Wasserstein M, Gelb MH, Yu C.
    Clin Chem; 2017 Apr; 63(4):842-851. PubMed ID: 28196920
    [Abstract] [Full Text] [Related]

  • 3. Diagnosing lysosomal storage disorders: Pompe disease.
    Bodamer OA, Dajnoki A.
    Curr Protoc Hum Genet; 2012 Oct; Chapter 17():Unit17.11. PubMed ID: 23074069
    [Abstract] [Full Text] [Related]

  • 4. Mass Spectrometry but Not Fluorimetry Distinguishes Affected and Pseudodeficiency Patients in Newborn Screening for Pompe Disease.
    Liao HC, Chan MJ, Yang CF, Chiang CC, Niu DM, Huang CK, Gelb MH.
    Clin Chem; 2017 Jul; 63(7):1271-1277. PubMed ID: 28450385
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. Identification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry.
    Scott CR, Elliott S, Buroker N, Thomas LI, Keutzer J, Glass M, Gelb MH, Turecek F.
    J Pediatr; 2013 Aug 09; 163(2):498-503. PubMed ID: 23465405
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. Algorithm for Pompe disease newborn screening: results from the Taiwan screening program.
    Chiang SC, Hwu WL, Lee NC, Hsu LW, Chien YH.
    Mol Genet Metab; 2012 Jul 16; 106(3):281-6. PubMed ID: 22578805
    [Abstract] [Full Text] [Related]

  • 9. 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 16; 118(4):304-9. PubMed ID: 27238910
    [Abstract] [Full Text] [Related]

  • 10. A tandem mass spectrometry triplex assay for the detection of Fabry, Pompe, and mucopolysaccharidosis-I (Hurler).
    Duffey TA, Bellamy G, Elliott S, Fox AC, Glass M, Turecek F, Gelb MH, Scott CR.
    Clin Chem; 2010 Dec 16; 56(12):1854-61. PubMed ID: 20940330
    [Abstract] [Full Text] [Related]

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  • 12. Newborn screening for Pompe disease in Japan.
    Oda E, Tanaka T, Migita O, Kosuga M, Fukushi M, Okumiya T, Osawa M, Okuyama T.
    Mol Genet Metab; 2011 Dec 16; 104(4):560-5. PubMed ID: 21963784
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  • 14. [Establishment and clinical application of dried blood spots and mixed leukocytes for determination of acid alpha-glucosidase activity].
    Qiu WJ, Wang X, Wang Y, Ye J, Han LS, Zhang HW, Gu XF.
    Zhonghua Er Ke Za Zhi; 2010 Jan 16; 48(1):55-9. PubMed ID: 20441705
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  • 17. 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 16; 55(1):158-64. PubMed ID: 18988750
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  • 19. Pompe disease ascertained through The Lantern Project, 2018-2021: Next-generation sequencing and enzymatic testing to overcome obstacles to diagnosis.
    Sniderman King L, Pan Y, Nallamilli BRR, Hegde M, Jagannathan L, Ramachander V, Lucas A, Markind J, Colzani R.
    Mol Genet Metab; 2023 May 16; 139(1):107565. PubMed ID: 37087815
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