These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

121 related items for PubMed ID: 3282727

  • 21. Adult onset acid maltase deficiency. Distribution and progression of clinical and pathological abnormality in a family.
    Swash M, Schwartz MS, Apps MC.
    J Neurol Sci; 1985 Apr; 68(1):61-74. PubMed ID: 3921668
    [Abstract] [Full Text] [Related]

  • 22.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 23. 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
    [Abstract] [Full Text] [Related]

  • 24. A novel acid alpha-glucosidase mutation identified in a Pakistani family with glycogen storage disease type II.
    Kroos MA, Waitfield AE, Joosse M, Winchester B, Reuser AJ, MacDermot KD.
    J Inherit Metab Dis; 1997 Aug; 20(4):556-8. PubMed ID: 9266392
    [Abstract] [Full Text] [Related]

  • 25.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 26. An investigation of the properties and possible clinical significance of the lysosomal alpha-glucosidase GAA*2 allele.
    Swallow DM, Kroos M, Van der Ploeg AT, Griffiths B, Islam I, Marenah CB, Reuser AJ.
    Ann Hum Genet; 1989 May; 53(2):177-84. PubMed ID: 2688539
    [Abstract] [Full Text] [Related]

  • 27.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 28.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 29.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 30. The effect of age on biochemical and morphological changes in the semitendinosus muscle of cattle with generalized glycogenosis type II.
    Howell JM, Dorling PR, Cook RD.
    Neuropathol Appl Neurobiol; 1984 May; 10(4):255-66. PubMed ID: 6435005
    [Abstract] [Full Text] [Related]

  • 31.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 32.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 33. 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
    [No Abstract] [Full Text] [Related]

  • 34. Glycogenosis type II: protein and DNA analysis in five South African families from various ethnic origins.
    Van der Ploeg AT, Hoefsloot LH, Hoogeveen-Westerveld M, Petersen EM, Reuser AJ.
    Am J Hum Genet; 1989 Jun; 44(6):787-93. PubMed ID: 2658562
    [Abstract] [Full Text] [Related]

  • 35.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 36. Breakdown of lysosomal glycogen in cultured fibroblasts from glycogenosis type II patients after uptake of acid alpha-glucosidase.
    van der Ploeg AT, Kroos M, van Dongen JM, Visser WJ, Bolhuis PA, Loonen MC, Reuser AJ.
    J Neurol Sci; 1987 Jul; 79(3):327-36. PubMed ID: 3302116
    [Abstract] [Full Text] [Related]

  • 37. Frequent mutation in Chinese patients with infantile type of GSD II in Taiwan: evidence for a founder effect.
    Shieh JJ, Lin CY.
    Hum Mutat; 1998 Jul; 11(4):306-12. PubMed ID: 9554747
    [Abstract] [Full Text] [Related]

  • 38. Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program.
    Labrousse P, Chien YH, Pomponio RJ, Keutzer J, Lee NC, Akmaev VR, Scholl T, Hwu WL.
    Mol Genet Metab; 2010 Apr; 99(4):379-83. PubMed ID: 20080426
    [Abstract] [Full Text] [Related]

  • 39.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 40. Juvenile-onset glycogen storage disease type II with novel mutations in acid alpha-glucosidase gene.
    Lam CW, Yuen YP, Chan KY, Tong SF, Lai CK, Chow TC, Lee KC, Chan YW, Martiniuk F.
    Neurology; 2003 Feb 25; 60(4):715-7. PubMed ID: 12601120
    [Abstract] [Full Text] [Related]

    Page: [Previous] [Next] [New Search]
    of 7.