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Journal Abstract Search

200 related items for PubMed ID: 17270480

  • 1. Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots.
    Kallwass H, Carr C, Gerrein J, Titlow M, Pomponio R, Bali D, Dai J, Kishnani P, Skrinar A, Corzo D, Keutzer J.
    Mol Genet Metab; 2007 Apr; 90(4):449-52. PubMed ID: 17270480
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  • 2. Screening for Pompe disease using a rapid dried blood spot method: experience of a clinical diagnostic laboratory.
    Goldstein JL, Young SP, Changela M, Dickerson GH, Zhang H, Dai J, Peterson D, Millington DS, Kishnani PS, Bali DS.
    Muscle Nerve; 2009 Jul; 40(1):32-6. PubMed ID: 19533645
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  • 3. A new diagnostic assay for glycogen storage disease type II in mixed leukocytes.
    Okumiya T, Keulemans JL, Kroos MA, Van der Beek NM, Boer MA, Takeuchi H, Van Diggelen OP, Reuser AJ.
    Mol Genet Metab; 2006 May; 88(1):22-8. PubMed ID: 16359900
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  • 4. Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program.
    Chien YH, Chiang SC, Zhang XK, Keutzer J, Lee NC, Huang AC, Chen CA, Wu MH, Huang PH, Tsai FJ, Chen YT, Hwu WL.
    Pediatrics; 2008 Jul; 122(1):e39-45. PubMed ID: 18519449
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  • 5. Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper.
    Chamoles NA, Niizawa G, Blanco M, Gaggioli D, Casentini C.
    Clin Chim Acta; 2004 Sep; 347(1-2):97-102. PubMed ID: 15313146
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  • 6. Correlation of acid alpha-glucosidase and glycogen content in skin fibroblasts with age of onset in Pompe disease.
    Umapathysivam K, Hopwood JJ, Meikle PJ.
    Clin Chim Acta; 2005 Nov; 361(1-2):191-8. PubMed ID: 15993875
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  • 11. Algorithm for Pompe disease newborn screening: results from the Taiwan screening program.
    Chiang SC, Hwu WL, Lee NC, Hsu LW, Chien YH.
    Mol Genet Metab; 2012 Jul; 106(3):281-6. PubMed ID: 22578805
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  • 13. Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience.
    Niño MY, Wijgerde M, de Faria DOS, Hoogeveen-Westerveld M, Bergsma AJ, Broeders M, van der Beek NAME, van den Hout HJM, van der Ploeg AT, Verheijen FW, Pijnappel WWMP.
    Eur J Hum Genet; 2021 Mar; 29(3):434-446. PubMed ID: 33162552
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  • 14. Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid alpha-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease.
    Zhang H, Kallwass H, Young SP, Carr C, Dai J, Kishnani PS, Millington DS, Keutzer J, Chen YT, Bali D.
    Genet Med; 2006 May; 8(5):302-6. PubMed ID: 16702880
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  • 16. Newborn screening for Pompe disease in Japan.
    Oda E, Tanaka T, Migita O, Kosuga M, Fukushi M, Okumiya T, Osawa M, Okuyama T.
    Mol Genet Metab; 2011 Dec; 104(4):560-5. PubMed ID: 21963784
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