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Journal Abstract Search


126 related items for PubMed ID: 8439343

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  • 4. Infantile and late onset form of generalised glycogenosis type II in cattle.
    Howell JM, Dorling PR, Cook RD, Robinson WF, Bradley S, Gawthorne JM.
    J Pathol; 1981 Aug; 134(4):267-77. PubMed ID: 7033492
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  • 5. E7 (1057ΔTA) mutation of the acidic α-glucosidase gene causes Pompe's disease in Droughtmaster cattle.
    Lyons RE, Johnston DJ, McGowan MR, Laing A, Robinson B, Owen H, Hill BD, Burns BM.
    Aust Vet J; 2017 May; 95(5):138-142. PubMed ID: 28444756
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  • 6. [Glycogenosis type II; acid alpha-glucosidase deficiency].
    Hirayasu T, Chinen K, Sakuda H, Iwamasa T.
    Nihon Rinsho; 1995 Dec; 53(12):2938-42. PubMed ID: 8577039
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  • 7. [Pompe's disease--acid alpha-glucosidase deficiency--a review].
    Iwamasa T, Chinen K, Hirayasu T.
    Nihon Rinsho; 1993 Sep; 51(9):2324-9. PubMed ID: 8411709
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  • 8. Correction/mutation of acid alpha-D-glucosidase gene by modified single-stranded oligonucleotides: in vitro and in vivo studies.
    Lu IL, Lin CY, Lin SB, Chen ST, Yeh LY, Yang FY, Au LC.
    Gene Ther; 2003 Oct; 10(22):1910-6. PubMed ID: 14502220
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  • 9. 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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  • 10. Genotyping glycogen storage disease type II and type V in cattle reared in the Czech Republic.
    Cítek J, Rehout V, Vecerek L, Hájková J.
    J Vet Med A Physiol Pathol Clin Med; 2007 Jun; 54(5):257-9. PubMed ID: 17523960
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  • 11. Haemopoietic chimaerism: a complication in heterozygote detection tests for inherited defects in cattle.
    Healy PJ, Dennis JA, Nicholls PJ, Reichmann KG.
    Anim Genet; 1994 Feb; 25(1):1-6. PubMed ID: 8161014
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  • 13. Evidence of molecular heterogeneity for generalised glycogenosis between and within breeds of cattle.
    Healy PJ, Nicholls PJ, Martiniuk F, Tzall S, Hirschhorn R, Howell JM.
    Aust Vet J; 1995 Aug; 72(8):309-11. PubMed ID: 8579563
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  • 14. Detection of a homozygous D645E mutation of the acid alpha-glucosidase gene and glycogen deposition in tissues in a second-trimester fetus with infantile glycogen storage disease type II.
    Chen CP, Lin SP, Tzen CY, Tsai FJ, Hwu WL, Wang W.
    Prenat Diagn; 2004 Mar; 24(3):231-2. PubMed ID: 15057961
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  • 15. Bovine glycogenosis type II: the molecular defect in Shorthorn cattle.
    Palmer DG, Dorling PR, Howell JM.
    Neuromuscul Disord; 1994 Jan; 4(1):39-48. PubMed ID: 8173350
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  • 16. 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 Jan; 11(3):209-15. PubMed ID: 9521422
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  • 18. Glycogen-storage disease type II (acid maltase deficiency): identification of a novel small deletion (delCC482+483) in French patients.
    Nicolino M, Puech JP, Letourneur F, Fardeau M, Kahn A, Poenaru L.
    Biochem Biophys Res Commun; 1997 Jun 09; 235(1):138-41. PubMed ID: 9196050
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  • 19. [Severe form of juvenile type II glycogenosis in a compound-heterozygous boy (Tyr-292--> Cys/Arg-854-->Stop)].
    Castro-Gago M, Eirís-Puñal J, Rodríguez-Núñez A, Pintos-Martínez E, Benlloch-Marín T, Barros-Angueira F.
    Rev Neurol; 1997 Jun 09; 29(1):46-9. PubMed ID: 10528311
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