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Journal Abstract Search

247 related items for PubMed ID: 22664150

  • 1. Autopsy findings in late-onset Pompe disease: a case report and systematic review of the literature.
    Hobson-Webb LD, Proia AD, Thurberg BL, Banugaria S, Prater SN, Kishnani PS.
    Mol Genet Metab; 2012 Aug; 106(4):462-9. PubMed ID: 22664150
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  • 2. 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; 120(3):163-172. PubMed ID: 28185884
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  • 3. 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; 106(3):301-9. PubMed ID: 22613277
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  • 9. 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; 46(4):359-374. PubMed ID: 31545528
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  • 10. Expanding the clinical spectrum of late-onset Pompe disease: dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered.
    El-Gharbawy AH, Bhat G, Murillo JE, Thurberg BL, Kampmann C, Mengel KE, Kishnani PS.
    Mol Genet Metab; 2011 Aug; 103(4):362-6. PubMed ID: 21605996
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  • 11. Pompe disease: An Indian series diagnosed on muscle biopsy by ultrastructural characterization.
    Kakkar A, Sharma MC, Nambirajan A, Gulati S, Bhatia R, Suri V, Sarkar C.
    Ultrastruct Pathol; 2018 Aug; 42(3):211-219. PubMed ID: 29565761
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  • 12. Multisystem presentation of Late Onset Pompe Disease: what every consulting neurologist should know.
    Jastrzębska A, Kostera-Pruszczyk A.
    Neurol Neurochir Pol; 2023 Aug; 57(2):143-150. PubMed ID: 36478346
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  • 15. 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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  • 19. 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 15; 127(2):128-131. PubMed ID: 31153821
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