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Journal Abstract Search

132 related items for PubMed ID: 32069240

  • 1. 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]

  • 2. Rapid ultraperformance liquid chromatography-tandem mass spectrometry assay for a characteristic glycogen-derived tetrasaccharide in Pompe disease and other glycogen storage diseases.
    Sluiter W, van den Bosch JC, Goudriaan DA, van Gelder CM, de Vries JM, Huijmans JG, Reuser AJ, van der Ploeg AT, Ruijter GJ.
    Clin Chem; 2012 Jul 26; 58(7):1139-47. PubMed ID: 22623745
    [Abstract] [Full Text] [Related]

  • 3. Determination of oligosaccharides in Pompe disease by electrospray ionization tandem mass spectrometry.
    Rozaklis T, Ramsay SL, Whitfield PD, Ranieri E, Hopwood JJ, Meikle PJ.
    Clin Chem; 2002 Jan 26; 48(1):131-9. PubMed ID: 11751548
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  • 7. Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe disease.
    An Y, Young SP, Kishnani PS, Millington DS, Amalfitano A, Corz D, Chen YT.
    Mol Genet Metab; 2005 Aug 26; 85(4):247-54. PubMed ID: 15886040
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  • 8. Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn Screening.
    Chien YH, Goldstein JL, Hwu WL, Smith PB, Lee NC, Chiang SC, Tolun AA, Zhang H, Vaisnins AE, Millington DS, Kishnani PS, Young SP.
    JIMD Rep; 2015 Aug 26; 19():67-73. PubMed ID: 25681082
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  • 9. Development of a kit for urine collection on filter paper as an alternative for Pompe disease screening and monitoring by LC-HRMS.
    de Souza HMR, Scalco FB, Garrett R, de C Marques FF.
    Anal Methods; 2023 Aug 17; 15(32):3932-3939. PubMed ID: 37539791
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  • 10. Assessing disease severity in Pompe disease: the roles of a urinary glucose tetrasaccharide biomarker and imaging techniques.
    Young SP, Piraud M, Goldstein JL, Zhang H, Rehder C, Laforet P, Kishnani PS, Millington DS, Bashir MR, Bali DS.
    Am J Med Genet C Semin Med Genet; 2012 Feb 15; 160C(1):50-8. PubMed ID: 22252961
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  • 11. 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
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  • 12. Liquid chromatographic assay for a glucose tetrasaccharide, a putative biomarker for the diagnosis of Pompe disease.
    An Y, Young SP, Hillman SL, Van Hove JL, Chen YT, Millington DS.
    Anal Biochem; 2000 Dec 01; 287(1):136-43. PubMed ID: 11078593
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  • 13. Experience with the Urinary Tetrasaccharide Metabolite for Pompe Disease in the Diagnostic Laboratory.
    Saville JT, Fuller M.
    Metabolites; 2021 Jul 08; 11(7):. PubMed ID: 34357340
    [Abstract] [Full Text] [Related]

  • 14. Increased urinary excretion of a glycogen-derived tetrasaccharide in heterozygotes with glycogen storage diseases type II and III.
    Chester MA, Lundblad A, Häger A, Sjöblad S, Loonen C, Tager JM, Zopf D.
    Lancet; 1983 Apr 30; 1(8331):994-5. PubMed ID: 6132305
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  • 15. A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders.
    Semeraro M, Sacchetti E, Deodato F, Coşkun T, Lay I, Catesini G, Olivieri G, Rizzo C, Boenzi S, Dionisi-Vici C.
    Orphanet J Rare Dis; 2021 Jan 09; 16(1):24. PubMed ID: 33422100
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  • 16. Oligosaccharide analysis in urine by maldi-tof mass spectrometry for the diagnosis of lysosomal storage diseases.
    Xia B, Asif G, Arthur L, Pervaiz MA, Li X, Liu R, Cummings RD, He M.
    Clin Chem; 2013 Sep 09; 59(9):1357-68. PubMed ID: 23676310
    [Abstract] [Full Text] [Related]

  • 17. Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders.
    Hagemeijer MC, van den Bosch JC, Bongaerts M, Jacobs EH, van den Hout JMP, Oussoren E, Ruijter GJG.
    J Inherit Metab Dis; 2023 Mar 09; 46(2):206-219. PubMed ID: 36752951
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  • 18. Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G "late-onset" GAA variant.
    Rairikar MV, Case LE, Bailey LA, Kazi ZB, Desai AK, Berrier KL, Coats J, Gandy R, Quinones R, Kishnani PS.
    Mol Genet Metab; 2017 Nov 09; 122(3):99-107. PubMed ID: 28951071
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  • 19. Development of a rapid simultaneous assay of two urinary tetrasaccharide metabolites using differential ion mobility and tandem mass spectrometry and its application to patients with glycogen storage disease (type Ib and II).
    Ren J, Ma Y, Ma M, Ding J, Jiang J, Zheng X, Han X.
    Anal Bioanal Chem; 2023 Nov 09; 415(27):6863-6871. PubMed ID: 37770665
    [Abstract] [Full Text] [Related]

  • 20. Whole-body magnetic resonance imaging in late-onset Pompe disease: Clinical utility and correlation with functional measures.
    Khan AA, Boggs T, Bowling M, Austin S, Stefanescu M, Case L, Kishnani PS.
    J Inherit Metab Dis; 2020 May 09; 43(3):549-557. PubMed ID: 31710733
    [Abstract] [Full Text] [Related]

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