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Journal Abstract Search

339 related items for PubMed ID: 29678259

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

  • 2. 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]

  • 3. 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 16; 57(9):1286-94. PubMed ID: 21771947
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. 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]

  • 6. Lysosomal storage disorder screening implementation: findings from the first six months of full population pilot testing in Missouri.
    Hopkins PV, Campbell C, Klug T, Rogers S, Raburn-Miller J, Kiesling J.
    J Pediatr; 2015 Jan 28; 166(1):172-7. PubMed ID: 25444528
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. 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]

  • 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 20; 118(4):304-9. PubMed ID: 27238910
    [Abstract] [Full Text] [Related]

  • 10. Opinions of adults affected with later-onset lysosomal storage diseases regarding newborn screening: A qualitative study.
    Lisi EC, Ali N.
    J Genet Couns; 2021 Dec 20; 30(6):1544-1558. PubMed ID: 33938615
    [Abstract] [Full Text] [Related]

  • 11. Expanding newborn screening for lysosomal disorders: opportunities and challenges.
    Waggoner DJ, Tan CA.
    Dev Disabil Res Rev; 2011 Dec 20; 17(1):9-14. PubMed ID: 22447749
    [Abstract] [Full Text] [Related]

  • 12. Newborn screening of lysosomal storage disorders.
    Marsden D, Levy H.
    Clin Chem; 2010 Jul 20; 56(7):1071-9. PubMed ID: 20489136
    [Abstract] [Full Text] [Related]

  • 13. [How does the landscape change in lysosomal storage disease].
    Parini R.
    Pediatr Med Chir; 2007 Jul 20; 29(5):275-8. PubMed ID: 18402399
    [No Abstract] [Full Text] [Related]

  • 14. Parents: critical stakeholders in expanding newborn screening.
    Ross LF, Waggoner DJ.
    J Pediatr; 2012 Sep 20; 161(3):385-9. PubMed ID: 22727864
    [No Abstract] [Full Text] [Related]

  • 15. Newborn screening for lysosomal storage disorders.
    Matern D, Gavrilov D, Oglesbee D, Raymond K, Rinaldo P, Tortorelli S.
    Semin Perinatol; 2015 Apr 20; 39(3):206-16. PubMed ID: 25891428
    [Abstract] [Full Text] [Related]

  • 16. [Diagnosis of lysosomal storage diseases using ultrastructural studies and biopsies of the conjunctiva].
    Libert J, Danis P.
    Bull Mem Soc Fr Ophtalmol; 1981 Apr 20; 93():144-50. PubMed ID: 6809088
    [No Abstract] [Full Text] [Related]

  • 17. Newborn screening for six lysosomal storage disorders in a cohort of Mexican patients: Three-year findings from a screening program in a closed Mexican health system.
    Navarrete-Martínez JI, Limón-Rojas AE, Gaytán-García MJ, Reyna-Figueroa J, Wakida-Kusunoki G, Delgado-Calvillo MDR, Cantú-Reyna C, Cruz-Camino H, Cervantes-Barragán DE.
    Mol Genet Metab; 2017 May 20; 121(1):16-21. PubMed ID: 28302345
    [Abstract] [Full Text] [Related]

  • 18. Lysosomal storage disorders. Diagnosis by ultrastructural examination of skin biopsy specimens.
    O'Brien JS, Bernett J, Veath ML, Paa D.
    Arch Neurol; 1975 Sep 20; 32(9):592-9. PubMed ID: 809024
    [Abstract] [Full Text] [Related]

  • 19. Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature.
    Voorink-Moret M, Goorden SMI, van Kuilenburg ABP, Wijburg FA, Ghauharali-van der Vlugt JMM, Beers-Stet FS, Zoetekouw A, Kulik W, Hollak CEM, Vaz FM.
    Mol Genet Metab; 2018 Feb 20; 123(2):76-84. PubMed ID: 29290526
    [Abstract] [Full Text] [Related]

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