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Journal Abstract Search

281 related items for PubMed ID: 34626

  • 1. Characterization of the molecular defect in infantile and adult acid alpha-glucosidase deficiency fibroblasts.
    Beratis NG, LaBadie GU, Hirschhorn K.
    J Clin Invest; 1978 Dec; 62(6):1264-74. PubMed ID: 34626
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  • 2. Biochemical genetics of the Lapland dog model of glycogen storage disease type II (acid alpha-glucosidase deficiency).
    Walvoort HC, Slee RG, Sluis KJ, Koster JF, Reuser AJ.
    Am J Med Genet; 1984 Nov; 19(3):589-98. PubMed ID: 6391168
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  • 3. Genetic heterogeneity in acid alpha-glucosidase deficiency.
    Beratis NG, LaBadie GU, Hirschhorn K.
    Am J Hum Genet; 1983 Jan; 35(1):21-33. PubMed ID: 6401921
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  • 4. Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts.
    Reuser AJ, Kroos M, Willemsen R, Swallow D, Tager JM, Galjaard H.
    J Clin Invest; 1987 Jun; 79(6):1689-99. PubMed ID: 3108320
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  • 5. Glycogen Storage Disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry.
    Hermans MM, Kroos MA, Smeitink JA, van der Ploeg AT, Kleijer WJ, Reuser AJ.
    Hum Mutat; 1998 Jun; 11(3):209-15. PubMed ID: 9521422
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  • 6. [Late infantile form of Pompe's disease. Deficiency of alpha-1,4-glucosidase (acid maltase)].
    Colomer J, Roig M, Campistol J, Rullan G, Fernández-Alvarez E.
    An Esp Pediatr; 1984 Sep 15; 21(3):250-9. PubMed ID: 6391315
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  • 7. Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the infantile form of the disease.
    Montalvo AL, Cariati R, Deganuto M, Guerci V, Garcia R, Ciana G, Bembi B, Pittis MG.
    Mol Genet Metab; 2004 Mar 15; 81(3):203-8. PubMed ID: 14972326
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  • 8. Demonstration of acid alpha-glucosidase in different types of Pompe disease by use of an immunochemical method.
    Ninomiya N, Matsuda I, Matsuoka T, Iwamasa T, Nonaka I.
    J Neurol Sci; 1984 Mar 15; 66(2-3):129-39. PubMed ID: 6442343
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 10. Vacuolar myopathy with type 2 A fiber atrophy and type 2 B fiber deficiency. A case of childhood form acid alpha-1,4-glucosidase deficiency.
    Matsuishi T, Terasawa K, Yoshida I, Yano E, Yamashita F, Hidaka T, Ishihara O, Yoshino M, Nonaka I, Kurokawa T, Nakamura Y.
    Neuropediatrics; 1982 Nov 15; 13(4):173-6. PubMed ID: 6818487
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  • 11. 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 15; 347(1-2):97-102. PubMed ID: 15313146
    [Abstract] [Full Text] [Related]

  • 12. Stabilising normal and mis-sense variant alpha-glucosidase.
    Kakavanos R, Hopwood JJ, Lang D, Meikle PJ, Brooks DA.
    FEBS Lett; 2006 Aug 07; 580(18):4365-70. PubMed ID: 16846599
    [Abstract] [Full Text] [Related]

  • 13. Mature 98,000-dalton acid alpha-glucosidase is deficient in Japanese quails with acid maltase deficiency.
    Suhara Y, Ishiura S, Tsukahara T, Sugita H.
    Muscle Nerve; 1989 Aug 07; 12(8):670-8. PubMed ID: 2506448
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  • 15. Complete correction of acid alpha-glucosidase deficiency in Pompe disease fibroblasts in vitro, and lysosomally targeted expression in neonatal rat cardiac and skeletal muscle.
    Pauly DF, Johns DC, Matelis LA, Lawrence JH, Byrne BJ, Kessler PD.
    Gene Ther; 1998 Apr 07; 5(4):473-80. PubMed ID: 9614571
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  • 16. [Characterization of alpha-glucosidase in skin fibroblasts in the diagnosis of glycogenosis type 2 (Pompe disease)].
    Braulke T, Sandig KR.
    Kinderarztl Prax; 1984 Aug 07; 52(8):377-82. PubMed ID: 6384623
    [No Abstract] [Full Text] [Related]

  • 17. [Acid maltase deficiency in 2 adolescent siblings].
    Gracia P, Benlloch T, de la Fuente G, Durántez A, Espanña P, Cánovas A, Illera ER.
    Med Clin (Barc); 1982 Sep 16; 79(5):227-31. PubMed ID: 6755088
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  • 19. Rat liver neutral alpha-glucosidase: isolation and characterization.
    Lavrenova TP, Presnova VN.
    Biochem Mol Biol Int; 1994 Mar 16; 32(4):671-9. PubMed ID: 8038718
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