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Journal Abstract Search

219 related items for PubMed ID: 30530130

  • 1. Development of a fast LC-MS/MS protocol for combined measurement of six LSDs on dried blood spot in a newborn screening program.
    Scolamiero E, Casetta B, Malvagia S, Tanigawa T, Forni G, Funghini S, Mura M, Raspini F, Poggiali S, la Marca G.
    J Pharm Biomed Anal; 2019 Feb 20; 165():135-140. PubMed ID: 30530130
    [Abstract] [Full Text] [Related]

  • 2. A column-switching HPLC-MS/MS method for mucopolysaccharidosis type I analysis in a multiplex assay for the simultaneous newborn screening of six lysosomal storage disorders.
    Gucciardi A, Legnini E, Di Gangi IM, Corbetta C, Tomanin R, Scarpa M, Giordano G.
    Biomed Chromatogr; 2014 Aug 20; 28(8):1131-9. PubMed ID: 24449175
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  • 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
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  • 4. 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 16; 63(10):1364-1370. PubMed ID: 38135922
    [Abstract] [Full Text] [Related]

  • 5. Short-incubation mass spectrometry assay for lysosomal storage disorders in newborn and high-risk population screening.
    Mechtler TP, Metz TF, Müller HG, Ostermann K, Ratschmann R, De Jesus VR, Shushan B, Di Bussolo JM, Herman JL, Herkner KR, Kasper DC.
    J Chromatogr B Analyt Technol Biomed Life Sci; 2012 Nov 01; 908():9-17. PubMed ID: 23122395
    [Abstract] [Full Text] [Related]

  • 6. Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platform.
    Sista RS, Wang T, Wu N, Graham C, Eckhardt A, Winger T, Srinivasan V, Bali D, Millington DS, Pamula VK.
    Clin Chim Acta; 2013 Sep 23; 424():12-8. PubMed ID: 23660237
    [Abstract] [Full Text] [Related]

  • 7. 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 23; 41(2):209-219. PubMed ID: 29143201
    [Abstract] [Full Text] [Related]

  • 8. 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 23; 118(4):304-9. PubMed ID: 27238910
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  • 10. Multiplex Tandem Mass Spectrometry Enzymatic Activity Assay for Newborn Screening of the Mucopolysaccharidoses and Type 2 Neuronal Ceroid Lipofuscinosis.
    Liu Y, Yi F, Kumar AB, Kumar Chennamaneni N, Hong X, Scott CR, Gelb MH, Turecek F.
    Clin Chem; 2017 Jun 23; 63(6):1118-1126. PubMed ID: 28428354
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  • 14. 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 23; 121(1):16-21. PubMed ID: 28302345
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  • 15. Multiplex tandem mass spectrometry assay for newborn screening of X-linked adrenoleukodystrophy, biotinidase deficiency, and galactosemia with flexibility to assay other enzyme assays and biomarkers.
    Hong X, Kumar AB, Ronald Scott C, Gelb MH.
    Mol Genet Metab; 2018 Jun 23; 124(2):101-108. PubMed ID: 29680633
    [Abstract] [Full Text] [Related]

  • 16. Automated high-capacity on-line extraction and bioanalysis of dried blood spot samples using liquid chromatography/high-resolution accurate mass spectrometry.
    Oliveira RV, Henion J, Wickremsinhe ER.
    Rapid Commun Mass Spectrom; 2014 Nov 30; 28(22):2415-26. PubMed ID: 25303470
    [Abstract] [Full Text] [Related]

  • 17. A highly multiplexed biochemical assay for analytes in dried blood spots: application to newborn screening and diagnosis of lysosomal storage disorders and other inborn errors of metabolism.
    Hong X, Sadilek M, Gelb MH.
    Genet Med; 2020 Jul 30; 22(7):1262-1268. PubMed ID: 32307446
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  • 18. Methods for Determination of α-Glycosidase, β-Glycosidase, and α-Galactosidase Activities in Dried Blood Spot Samples.
    Sozmen EY, Sezer ED.
    Methods Mol Biol; 2017 Jul 30; 1594():255-264. PubMed ID: 28456989
    [Abstract] [Full Text] [Related]

  • 19. Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy.
    Turgeon CT, Moser AB, Mørkrid L, Magera MJ, Gavrilov DK, Oglesbee D, Raymond K, Rinaldo P, Matern D, Tortorelli S.
    Mol Genet Metab; 2015 Jan 30; 114(1):46-50. PubMed ID: 25481105
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  • 20. 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]

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