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758 related items for PubMed ID: 22253049

  • 1. The new era of Pompe disease: advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management.
    Kishnani PS, Beckemeyer AA, Mendelsohn NJ.
    Am J Med Genet C Semin Med Genet; 2012 Feb 15; 160C(1):1-7. PubMed ID: 22253049
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  • 5. New therapeutic approaches for Pompe disease: enzyme replacement therapy and beyond.
    Kishnani PS, Beckemeyer AA.
    Pediatr Endocrinol Rev; 2014 Sep 15; 12 Suppl 1():114-24. PubMed ID: 25345093
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  • 6. The impact of antibodies in late-onset Pompe disease: a case series and literature review.
    Patel TT, Banugaria SG, Case LE, Wenninger S, Schoser B, Kishnani PS.
    Mol Genet Metab; 2012 Jul 15; 106(3):301-9. PubMed ID: 22613277
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  • 9. 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 15; 361(1-2):191-8. PubMed ID: 15993875
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  • 10. The emerging phenotype of late-onset Pompe disease: A systematic literature review.
    Chan J, Desai AK, Kazi ZB, Corey K, Austin S, Hobson-Webb LD, Case LE, Jones HN, Kishnani PS.
    Mol Genet Metab; 2017 Mar 15; 120(3):163-172. PubMed ID: 28185884
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  • 11. Toward deconstructing the phenotype of late-onset Pompe disease.
    Schüller A, Wenninger S, Strigl-Pill N, Schoser B.
    Am J Med Genet C Semin Med Genet; 2012 Feb 15; 160C(1):80-8. PubMed ID: 22253010
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  • 14. Pompe disease: early diagnosis and early treatment make a difference.
    Chien YH, Hwu WL, Lee NC.
    Pediatr Neonatol; 2013 Aug 15; 54(4):219-27. PubMed ID: 23632029
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  • 17. Clinical insight meets scientific innovation to develop a next generation ERT for Pompe disease.
    Kishnani PS, Chien YH, Berger KI, Thibault N, Sparks S.
    Mol Genet Metab; 2024 Aug 15; 143(1-2):108559. PubMed ID: 39154400
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  • 19. New insights into therapeutic options for Pompe disease.
    Richard E, Douillard-Guilloux G, Caillaud C.
    IUBMB Life; 2011 Nov 15; 63(11):979-86. PubMed ID: 22002928
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