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Journal Abstract Search

122 related items for PubMed ID: 37539791

  • 1. 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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  • 2. 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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  • 3. 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
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  • 7. 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 Mar 26; 19():67-73. PubMed ID: 25681082
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  • 8. Diurnal variability of glucose tetrasaccharide (Glc4) excretion in patients with glycogen storage disease type III.
    Young SP, Khan A, Stefanescu E, Seifts AM, Hijazi G, Austin S, Kishnani PS.
    JIMD Rep; 2021 Mar 26; 58(1):37-43. PubMed ID: 33728245
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  • 11. 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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  • 12. 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
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  • 13. Newborn screening for Pompe disease in Italy: Long-term results and future challenges.
    Gragnaniello V, Pijnappel PWWM, Burlina AP, In 't Groen SLM, Gueraldi D, Cazzorla C, Maines E, Polo G, Salviati L, Di Salvo G, Burlina AB.
    Mol Genet Metab Rep; 2022 Dec 09; 33():100929. PubMed ID: 36310651
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  • 14. An improved method for glycosaminoglycan analysis by LC-MS/MS of urine samples collected on filter paper.
    Auray-Blais C, Lavoie P, Zhang H, Gagnon R, Clarke JT, Maranda B, Young SP, An Y, Millington DS.
    Clin Chim Acta; 2012 Apr 11; 413(7-8):771-8. PubMed ID: 22285314
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  • 15. Quantitation using HRMS: A new tool for rapid, specific and sensitive determination of catecholamines and deconjugated methanephrines metanephrines in urine.
    Lefeuvre S, Bois-Maublanc J, Mongeois E, Policarpo V, Formaux L, Francia T, Billaud EM, Got L.
    J Chromatogr B Analyt Technol Biomed Life Sci; 2021 Mar 01; 1166():122391. PubMed ID: 33246878
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  • 18. 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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