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Journal Abstract Search

350 related items for PubMed ID: 24383498

  • 1. The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients.
    Feeney EJ, Austin S, Chien YH, Mandel H, Schoser B, Prater S, Hwu WL, Ralston E, Kishnani PS, Raben N.
    Acta Neuropathol Commun; 2014 Jan 02; 2():2. PubMed ID: 24383498
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  • 2. Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD).
    Ripolone M, Violano R, Ronchi D, Mondello S, Nascimbeni A, Colombo I, Fagiolari G, Bordoni A, Fortunato F, Lucchini V, Saredi S, Filosto M, Musumeci O, Tonin P, Mongini T, Previtali S, Morandi L, Angelini C, Mora M, Sandri M, Sciacco M, Toscano A, Comi GP, Moggio M.
    Neuropathol Appl Neurobiol; 2018 Aug 02; 44(5):449-462. PubMed ID: 28574618
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  • 3. Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy.
    Prater SN, Patel TT, Buckley AF, Mandel H, Vlodavski E, Banugaria SG, Feeney EJ, Raben N, Kishnani PS.
    Orphanet J Rare Dis; 2013 Jun 20; 8():90. PubMed ID: 23787031
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  • 4. An integrative correlation of myopathology, phenotype and genotype in late onset Pompe disease.
    Kulessa M, Weyer-Menkhoff I, Viergutz L, Kornblum C, Claeys KG, Schneider I, Plöckinger U, Young P, Boentert M, Vielhaber S, Mawrin C, Bergmann M, Weis J, Ziagaki A, Stenzel W, Deschauer M, Nolte D, Hahn A, Schoser B, Schänzer A.
    Neuropathol Appl Neurobiol; 2020 Jun 20; 46(4):359-374. PubMed ID: 31545528
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  • 6. Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study.
    van der Ploeg A, Carlier PG, Carlier RY, Kissel JT, Schoser B, Wenninger S, Pestronk A, Barohn RJ, Dimachkie MM, Goker-Alpan O, Mozaffar T, Pena LD, Simmons Z, Straub V, Guglieri M, Young P, Boentert M, Baudin PY, Wens S, Shafi R, Bjartmar C, Thurberg BL.
    Mol Genet Metab; 2016 Sep 20; 119(1-2):115-23. PubMed ID: 27473031
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  • 8. Autophagy and lysosomes in Pompe disease.
    Fukuda T, Roberts A, Ahearn M, Zaal K, Ralston E, Plotz PH, Raben N.
    Autophagy; 2006 Sep 20; 2(4):318-20. PubMed ID: 16874053
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  • 9. Autophagy and mistargeting of therapeutic enzyme in skeletal muscle in Pompe disease.
    Fukuda T, Ahearn M, Roberts A, Mattaliano RJ, Zaal K, Ralston E, Plotz PH, Raben N.
    Mol Ther; 2006 Dec 20; 14(6):831-9. PubMed ID: 17008131
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  • 11. Pompe disease: from pathophysiology to therapy and back again.
    Lim JA, Li L, Raben N.
    Front Aging Neurosci; 2014 Dec 20; 6():177. PubMed ID: 25183957
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  • 12. Quantification of muscle pathology in infantile Pompe disease.
    Schänzer A, Kaiser AK, Mühlfeld C, Kulessa M, Paulus W, von Pein H, Rohrbach M, Viergutz L, Mengel E, Marquardt T, Neubauer B, Acker T, Hahn A.
    Neuromuscul Disord; 2017 Feb 20; 27(2):141-152. PubMed ID: 27927596
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  • 13. 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 20; 106(3):301-9. PubMed ID: 22613277
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  • 17. Deconstructing Pompe disease by analyzing single muscle fibers: to see a world in a grain of sand..
    Raben N, Takikita S, Pittis MG, Bembi B, Marie SK, Roberts A, Page L, Kishnani PS, Schoser BG, Chien YH, Ralston E, Nagaraju K, Plotz PH.
    Autophagy; 2007 Jul 20; 3(6):546-52. PubMed ID: 17592248
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  • 18. White matter lesions in treated late onset Pompe disease are not different to matched controls.
    Schneider I, Hensel O, Zierz S.
    Mol Genet Metab; 2019 Jun 20; 127(2):128-131. PubMed ID: 31153821
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  • 19. 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 20; 122(3):99-107. PubMed ID: 28951071
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