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PUBMED FOR HANDHELDS

Journal Abstract Search


233 related items for PubMed ID: 31545528

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  • 3. Remarkably low fibroblast acid α-glucosidase activity in three adults with Pompe disease.
    Wens SC, Kroos MA, de Vries JM, Hoogeveen-Westerveld M, Wijgerde MG, van Doorn PA, van der Ploeg AT, Reuser AJ.
    Mol Genet Metab; 2012 Nov; 107(3):485-9. PubMed ID: 23000108
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  • 8. Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited.
    Schoser BG, Müller-Höcker J, Horvath R, Gempel K, Pongratz D, Lochmüller H, Müller-Felber W.
    Neuropathol Appl Neurobiol; 2007 Oct; 33(5):544-59. PubMed ID: 17573812
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  • 9. Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease.
    Liu HX, Pu CQ, Shi Q, Zhang YT, Ban R.
    Chin Med J (Engl); 2018 Feb 20; 131(4):448-453. PubMed ID: 29451150
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  • 12. Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.
    Kishnani PS, Gibson JB, Gambello MJ, Hillman R, Stockton DW, Kronn D, Leslie ND, Pena LDM, Tanpaiboon P, Day JW, Wang RY, Goldstein JL, An Haack K, Sparks SE, Zhao Y, Hahn SH, Pompe ADVANCE Study Consortium.
    Genet Med; 2019 Nov 20; 21(11):2543-2551. PubMed ID: 31086307
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  • 17. 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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  • 18. BNIP3 Is Involved in Muscle Fiber Atrophy in Late-Onset Pompe Disease Patients.
    Carrasco-Rozas A, Fernández-Simón E, Suárez-Calvet X, Piñol-Jurado P, Alonso-Pérez J, de Luna N, Schoser B, Meinke P, Domínguez-González C, Hernández-Laín A, Paradas C, Rivas E, Illa I, Olivé M, Gallardo E, Díaz-Manera J.
    Am J Pathol; 2022 Aug 20; 192(8):1151-1166. PubMed ID: 35605642
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  • 20. Acid α-glucosidase (GAA) activity and glycogen content in muscle biopsy specimens of patients with Pompe disease: A systematic review.
    Schoser B, Raben N, Varfaj F, Walzer M, Toscano A.
    Mol Genet Metab Rep; 2024 Jun 20; 39():101085. PubMed ID: 38698877
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