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Journal Abstract Search

146 related items for PubMed ID: 36752951

  • 21. Newborn screening for lysosomal storage disorders: clinical evaluation of a two-tier strategy.
    Meikle PJ, Ranieri E, Simonsen H, Rozaklis T, Ramsay SL, Whitfield PD, Fuller M, Christensen E, Skovby F, Hopwood JJ.
    Pediatrics; 2004 Oct; 114(4):909-16. PubMed ID: 15466084
    [Abstract] [Full Text] [Related]

  • 22. 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]

  • 23. Measurement of Elevated Concentrations of Urine Keratan Sulfate by UPLC-MSMS in Lysosomal Storage Disorders (LSDs): Comparison of Urine Keratan Sulfate Levels in MPS IVA Versus Other LSDs.
    Ellsworth KA, Pollard LM, Cathey S, Wood T.
    JIMD Rep; 2017 Jun 25; 34():11-18. PubMed ID: 27469132
    [Abstract] [Full Text] [Related]

  • 24. Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders.
    Piraud M, Pettazzoni M, Lavoie P, Ruet S, Pagan C, Cheillan D, Latour P, Vianey-Saban C, Auray-Blais C, Froissart R.
    J Inherit Metab Dis; 2018 May 25; 41(3):457-477. PubMed ID: 29556840
    [Abstract] [Full Text] [Related]

  • 25. 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]

  • 26. An improved thin-layer chromatographic method for urinary oligosaccharide screening.
    Sewell AC.
    Clin Chim Acta; 1979 Mar 15; 92(3):411-4. PubMed ID: 285767
    [Abstract] [Full Text] [Related]

  • 27. Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry Analysis of Urinary Oligosaccharides and Glycoamino Acids for the Diagnosis of Mucopolysaccharidosis and Glycoproteinosis.
    Wongkittichote P, Cho SH, Miller A, King K, Herbst ZM, Ren Z, Gelb MH, Hong X.
    Clin Chem; 2024 Jun 03; 70(6):865-877. PubMed ID: 38597162
    [Abstract] [Full Text] [Related]

  • 28. 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 03; 28(8):1131-9. PubMed ID: 24449175
    [Abstract] [Full Text] [Related]

  • 29. 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]

  • 30. Demographic characteristics and distribution of lysosomal storage disorder subtypes in Eastern China.
    Chen X, Qiu W, Ye J, Han L, Gu X, Zhang H.
    J Hum Genet; 2016 Apr 16; 61(4):345-9. PubMed ID: 26740238
    [Abstract] [Full Text] [Related]

  • 31. Lysosomal storage disorders in Thailand: the Siriraj experience.
    Wasant P, Wattanaweeradej S, Raksadawan N, Kolodny EH.
    Southeast Asian J Trop Med Public Health; 1995 Apr 16; 26 Suppl 1():54-8. PubMed ID: 8629143
    [Abstract] [Full Text] [Related]

  • 32. Comparative triplex tandem mass spectrometry assays of lysosomal enzyme activities in dried blood spots using fast liquid chromatography: application to newborn screening of Pompe, Fabry, and Hurler diseases.
    Spáčil Z, Elliott S, Reeber SL, Gelb MH, Scott CR, Tureček F.
    Anal Chem; 2011 Jun 15; 83(12):4822-8. PubMed ID: 21548611
    [Abstract] [Full Text] [Related]

  • 33. Mass spectrometry in the study of lysosomal storage disorders.
    Meikle PJ, Fuller M, Hopwood JJ.
    Cell Mol Biol (Noisy-le-grand); 2003 Jul 15; 49(5):769-77. PubMed ID: 14528914
    [Abstract] [Full Text] [Related]

  • 34. Simple laboratory determination of excess oligosacchariduria.
    Sewell AC.
    Clin Chem; 1981 Feb 15; 27(2):243-5. PubMed ID: 6780239
    [Abstract] [Full Text] [Related]

  • 35.
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    [No Abstract] [Full Text] [Related]

  • 36. 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 15; 57(9):1286-94. PubMed ID: 21771947
    [Abstract] [Full Text] [Related]

  • 37. Combined targeted and untargeted high-resolution mass spectrometry analyses to investigate metabolic alterations in pompe disease.
    de Moraes MBM, de Souza HMR, de Oliveira MLC, Peake RWA, Scalco FB, Garrett R.
    Metabolomics; 2023 Mar 29; 19(4):29. PubMed ID: 36988742
    [Abstract] [Full Text] [Related]

  • 38. [Tetra-saccharide glucose as a diagnostic biomarker for Pompe disease: a study with 35 patients].
    Bobillo Lobato J, Durán Parejo P, Tejero Díez P, Jiménez Jiménez LM.
    Med Clin (Barc); 2013 Aug 04; 141(3):106-10. PubMed ID: 23756115
    [Abstract] [Full Text] [Related]

  • 39. The decision-making levels of urine tetrasaccharide for the diagnosis of Pompe disease in the Turkish population.
    Canbay E, Vural M, Kalkan Uçar S, Sezer ED, Karasoy H, Yüceyar AN, Çoker M, Sözmen EY.
    J Pediatr Endocrinol Metab; 2020 Mar 26; 33(3):391-395. PubMed ID: 32069240
    [Abstract] [Full Text] [Related]

  • 40. Disorders of glycoprotein degradation.
    Cantz M, Ulrich-Bott B.
    J Inherit Metab Dis; 1990 Mar 26; 13(4):523-37. PubMed ID: 2122119
    [Abstract] [Full Text] [Related]

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