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

170 related items for PubMed ID: 8094613

  • 1.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 2. 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; 2(4):268-73. PubMed ID: 8401535
    [Abstract] [Full Text] [Related]

  • 3.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 4. Identification of a missense mutation in an adult-onset patient with glycogenosis type II expressing only one allele.
    Martiniuk F, Mehler M, Bodkin M, Tzall S, Hirschhorn K, Zhong N, Hirschhorn R.
    DNA Cell Biol; 1991 Nov; 10(9):681-7. PubMed ID: 1684505
    [Abstract] [Full Text] [Related]

  • 5. The loss of a polymorphic glycosylation site caused by Thr-927-->Ile is linked to a second polymorphic Val-816-->Ile substitution in lysosomal alpha-glucosidase of American blacks.
    Hermans MM, Svetkey LP, Oostra BA, Chen YT, Reuser AJ.
    Genomics; 1993 Apr; 16(1):300-1. PubMed ID: 8486380
    [No Abstract] [Full Text] [Related]

  • 6. 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; 53(5):379-82. PubMed ID: 9660056
    [Abstract] [Full Text] [Related]

  • 7. Molecular study on the infantile form of Pompe disease in Chinese in Taiwan.
    Lin CY, Shieh JJ.
    Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi; 1996 May; 37(2):115-21. PubMed ID: 8935410
    [Abstract] [Full Text] [Related]

  • 8. 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 May; 11(3):209-15. PubMed ID: 9521422
    [Abstract] [Full Text] [Related]

  • 9. The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II.
    Hermans MM, De Graaff E, Kroos MA, Mohkamsing S, Eussen BJ, Joosse M, Willemsen R, Kleijer WJ, Oostra BA, Reuser AJ.
    Hum Mol Genet; 1994 Dec; 3(12):2213-8. PubMed ID: 7881422
    [Abstract] [Full Text] [Related]

  • 10. Human lysosomal alpha-glucosidase: functional characterization of the glycosylation sites.
    Hermans MM, Wisselaar HA, Kroos MA, Oostra BA, Reuser AJ.
    Biochem J; 1993 Feb 01; 289 ( Pt 3)(Pt 3):681-6. PubMed ID: 8435067
    [Abstract] [Full Text] [Related]

  • 11. Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex.
    Hoefsloot LH, Hoogeveen-Westerveld M, Kroos MA, van Beeumen J, Reuser AJ, Oostra BA.
    EMBO J; 1988 Jun 01; 7(6):1697-704. PubMed ID: 3049072
    [Abstract] [Full Text] [Related]

  • 12. 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 01; 53(2):177-84. PubMed ID: 2688539
    [Abstract] [Full Text] [Related]

  • 13. 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 01; 1(3):205-11. PubMed ID: 10737124
    [Abstract] [Full Text] [Related]

  • 14.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 15. Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II.
    Wan L, Lee CC, Hsu CM, Hwu WL, Yang CC, Tsai CH, Tsai FJ.
    J Neurol; 2008 Jun 01; 255(6):831-8. PubMed ID: 18458862
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 18. [Pompe's disease--acid alpha-glucosidase deficiency--a review].
    Iwamasa T, Chinen K, Hirayasu T.
    Nihon Rinsho; 1993 Sep 18; 51(9):2324-9. PubMed ID: 8411709
    [Abstract] [Full Text] [Related]

  • 19. Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II.
    McCready ME, Carson NL, Chakraborty P, Clarke JT, Callahan JW, Skomorowski MA, Chan AK, Bamforth F, Casey R, Rupar CA, Geraghty MT.
    Mol Genet Metab; 2007 Dec 18; 92(4):325-35. PubMed ID: 17723315
    [Abstract] [Full Text] [Related]

  • 20. Human lysosomal alpha-glucosidase. Characterization of the catalytic site.
    Hermans MM, Kroos MA, van Beeumen J, Oostra BA, Reuser AJ.
    J Biol Chem; 1991 Jul 25; 266(21):13507-12. PubMed ID: 1856189
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 9.