These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

381 related articles for article (PubMed ID: 30093709)

  • 1. The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants.
    Wasserstein MP; Caggana M; Bailey SM; Desnick RJ; Edelmann L; Estrella L; Holzman I; Kelly NR; Kornreich R; Kupchik SG; Martin M; Nafday SM; Wasserman R; Yang A; Yu C; Orsini JJ
    Genet Med; 2019 Mar; 21(3):631-640. PubMed ID: 30093709
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 121(1):16-21. PubMed ID: 28302345
    [TBL] [Abstract][Full Text] [Related]  

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

  • 4. Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience.
    Burton BK; Charrow J; Hoganson GE; Waggoner D; Tinkle B; Braddock SR; Schneider M; Grange DK; Nash C; Shryock H; Barnett R; Shao R; Basheeruddin K; Dizikes G
    J Pediatr; 2017 Nov; 190():130-135. PubMed ID: 28728811
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 41(2):209-219. PubMed ID: 29143201
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Newborn screening for lysosomal diseases: current status and potential interface with population medical genetics in Latin America.
    Giugliani R
    J Inherit Metab Dis; 2012 Sep; 35(5):871-7. PubMed ID: 22231381
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Newborn Screening for 6 Lysosomal Storage Disorders in China.
    Chang S; Zhan X; Liu Y; Song H; Gong Z; Han L; Maegawa GHB; Gu X; Zhang H
    JAMA Netw Open; 2024 May; 7(5):e2410754. PubMed ID: 38739391
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 166(1):172-7. PubMed ID: 25444528
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 431():80-6. PubMed ID: 24513544
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Tandem mass spectrometry-based multiplex assays for α-mannosidosis and fucosidosis.
    Kumar AB; Hong X; Yi F; Wood T; Gelb MH
    Mol Genet Metab; 2019 Jul; 127(3):207-211. PubMed ID: 31235216
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 28(8):1131-9. PubMed ID: 24449175
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Newborn screening for neuropathic lysosomal storage disorders.
    Hwu WL; Chien YH; Lee NC
    J Inherit Metab Dis; 2010 Aug; 33(4):381-6. PubMed ID: 20532820
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 30(6):1544-1558. PubMed ID: 33938615
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 413(15-16):1270-3. PubMed ID: 22548856
    [TBL] [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; 39(3):206-16. PubMed ID: 25891428
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 908():9-17. PubMed ID: 23122395
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Newborn Screening for Lysosomal Storage Disorders: Views of Genetic Healthcare Providers.
    Lisi EC; McCandless SE
    J Genet Couns; 2016 Apr; 25(2):373-84. PubMed ID: 26315880
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 57(9):1286-94. PubMed ID: 21771947
    [TBL] [Abstract][Full Text] [Related]  

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

  • 20. 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; 29(2-3):397-404. PubMed ID: 16763908
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 20.