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Journal Abstract Search

123 related items for PubMed ID: 10723725

  • 1. The bovine alpha-glucosidase gene: coding region, genomic structure, and mutations that cause bovine generalized glycogenosis.
    Dennis JA, Moran C, Healy PJ.
    Mamm Genome; 2000 Mar; 11(3):206-12. PubMed ID: 10723725
    [Abstract] [Full Text] [Related]

  • 2. Biochemical genetics of glycogenosis type II in Brahman cattle.
    Wisselaar HA, Hermans MM, Visser WJ, Kroos MA, Oostra BA, Aspden W, Harrison B, Hetzel DJ, Reuser AJ, Drinkwater RD.
    Biochem Biophys Res Commun; 1993 Feb 15; 190(3):941-7. PubMed ID: 8439343
    [Abstract] [Full Text] [Related]

  • 3. Genotyping Brahman cattle for generalised glycogenosis.
    Dennis JA, Healy PJ, Reichmann KG.
    Aust Vet J; 2002 May 15; 80(5):286-91. PubMed ID: 12074310
    [Abstract] [Full Text] [Related]

  • 4. 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 15; 95(5):138-142. PubMed ID: 28444756
    [Abstract] [Full Text] [Related]

  • 5. Skeletal-muscle alpha-glucosidases in bovine generalized glycogenosis type II.
    Dorling PR, Howell JM, Gawthorne JM.
    Biochem J; 1981 Aug 15; 198(2):409-12. PubMed ID: 7034730
    [Abstract] [Full Text] [Related]

  • 6. 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 15; 72(8):309-11. PubMed ID: 8579563
    [Abstract] [Full Text] [Related]

  • 7. Genotyping shorthorn cattle for generalised glycogenosis.
    Dennis JA, Healy PJ.
    Aust Vet J; 2001 Nov 15; 79(11):773-5. PubMed ID: 11789914
    [Abstract] [Full Text] [Related]

  • 8. Inhibition of bovine alpha-glucosidase by Castanospermum australe and its effect on the biochemical identification of heterozygotes for generalised glycogenosis type II (Pompe's disease) in cattle.
    Reichmann KG, Twist JO, McKenzie RA, Rowan KJ.
    Aust Vet J; 1987 Sep 15; 64(9):274-6. PubMed ID: 3122715
    [Abstract] [Full Text] [Related]

  • 9. Glycogen storage disease type II: identification of a dinucleotide deletion and a common missense mutation in the lysosomal alpha-glucosidase gene.
    Kroos MA, van Leenen D, Verbiest J, Reuser AJ, Hermans MM.
    Clin Genet; 1998 May 15; 53(5):379-82. PubMed ID: 9660056
    [Abstract] [Full Text] [Related]

  • 10. Two mutations affecting the transport and maturation of lysosomal alpha-glucosidase in an adult case of glycogen storage disease type II.
    Hermans MM, Kroos MA, de Graaff E, Oostra BA, Reuser AJ.
    Hum Mutat; 1993 May 15; 2(4):268-73. PubMed ID: 8401535
    [Abstract] [Full Text] [Related]

  • 11. Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients.
    Vorgerd M, Burwinkel B, Reichmann H, Malin JP, Kilimann MW.
    Neurogenetics; 1998 Mar 15; 1(3):205-11. PubMed ID: 10737124
    [Abstract] [Full Text] [Related]

  • 12. Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type II.
    Hermans MM, de Graaff E, Kroos MA, Wisselaar HA, Oostra BA, Reuser AJ.
    Biochem Biophys Res Commun; 1991 Sep 16; 179(2):919-26. PubMed ID: 1898413
    [Abstract] [Full Text] [Related]

  • 13. Identification of a small deletion in one allele of patients with infantile form of glycogen storage disease type II.
    Shieh JJ, Lin CY.
    Biochem Biophys Res Commun; 1996 Feb 15; 219(2):322-6. PubMed ID: 8604985
    [Abstract] [Full Text] [Related]

  • 14. Bovine generalised glycogenosis type II. Uptake of lysosomal alpha-glucosidase by cultured skeletal muscle and reversal of glycogen accumulation.
    Di Marco PN, Howell JM, Dorling PR.
    FEBS Lett; 1985 Oct 14; 190(2):301-4. PubMed ID: 3899727
    [Abstract] [Full Text] [Related]

  • 15. Mutation detection in glycogen storage-disease type II by RT-PCR and automated sequencing.
    Hermans MM, van Leenen D, Kroos MA, Reuser AJ.
    Biochem Biophys Res Commun; 1997 Dec 18; 241(2):414-8. PubMed ID: 9425285
    [Abstract] [Full Text] [Related]

  • 16. Novel human pathological mutations. Gene symbol: GAA. Disease: glycogen storage disease 2.
    Lin HY, Wu TJ, Hsu JH, Yu HC, Chuang CK, Huang CH, Niu DM.
    Hum Genet; 2010 Apr 18; 127(4):464. PubMed ID: 21488293
    [No Abstract] [Full Text] [Related]

  • 17. Novel human pathological mutations. Gene symbol: GAA. Disease: glycogen storage disease 2.
    Niu DM, Lin HY, Wu TJ, Hsu JH, Yu HC, Lin SP, Chuang CK, Huang CH.
    Hum Genet; 2010 Apr 18; 127(4):466. PubMed ID: 21488246
    [No Abstract] [Full Text] [Related]

  • 18. Novel human pathological mutations. Gene symbol: GAA. Disease: glycogen storage disease 2.
    Lin HY, Wu TJ, Hsu JH, Yu HC, Lin SP, Chuang CK, Huang CH, Niu DM.
    Hum Genet; 2010 Apr 18; 127(4):465. PubMed ID: 21488245
    [No Abstract] [Full Text] [Related]

  • 19. Novel human pathological mutations. Gene symbol: GAA. Disease: glycogen storage disease 2.
    Lin HY, Wu JT, Hsu JH, Yu HC, Lin SP, Huang CH, Niu DM.
    Hum Genet; 2010 Apr 18; 127(4):464. PubMed ID: 21488274
    [No Abstract] [Full Text] [Related]

  • 20. Novel human pathological mutations. Gene symbol: GAA. Disease: glycogen storage disease 2.
    Niu DM, Lin HY, Wu TJ, Hsu JH, Yu HC, Lin SP, Chuang CK, Huang CH.
    Hum Genet; 2010 Apr 18; 127(4):465. PubMed ID: 21488291
    [No Abstract] [Full Text] [Related]

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