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

120 related items for PubMed ID: 9660056

  • 41. Combination of two different homozygote mutations in Pompe disease.
    Arslan A, Poyrazoğlu HG, Kiraz A, Özcan A, Işık H, Ergul AB, Mungan NÖ, Streubel B, Ceylaner S, Altuner Torun Y.
    Pediatr Int; 2016 Mar; 58(3):241-243. PubMed ID: 26946079
    [Abstract] [Full Text] [Related]

  • 42. 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 Mar; 11(4):306-12. PubMed ID: 9554747
    [Abstract] [Full Text] [Related]

  • 43. [Clinical features and acid alpha-glucosidase gene mutation in 7 Chinese patients with glycogen storage disease type II].
    Liu Q, Zhao J, Wang ZX, Zhang W, Yuan Y.
    Zhonghua Yi Xue Za Zhi; 2013 Jul 02; 93(25):1981-5. PubMed ID: 24169249
    [Abstract] [Full Text] [Related]

  • 44. Late-onset GSDII with novel GAA gene mutation.
    Angelini C, Nascimbeni AC.
    Clin Genet; 2007 Apr 02; 71(4):374-5. PubMed ID: 17470141
    [No Abstract] [Full Text] [Related]

  • 45. Two extremes of the clinical spectrum of glycogen storage disease type II in one family: a matter of genotype.
    Kroos MA, Van der Kraan M, Van Diggelen OP, Kleijer WJ, Reuser AJ.
    Hum Mutat; 1997 Apr 02; 9(1):17-22. PubMed ID: 8990003
    [Abstract] [Full Text] [Related]

  • 46. An investigation of the possible influence of neutral alpha-glucosidases on the clinical heterogeneity of glycogenosis type II.
    Van der Ploeg AT, Kroos MA, Swallow DM, Reuser AJ.
    Ann Hum Genet; 1989 May 02; 53(2):185-92. PubMed ID: 2688540
    [Abstract] [Full Text] [Related]

  • 47. Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype.
    Anneser JM, Pongratz DE, Podskarbi T, Shin YS, Schoser BG.
    Neurology; 2005 Jan 25; 64(2):368-70. PubMed ID: 15668445
    [Abstract] [Full Text] [Related]

  • 48. 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 25; 16(1):300-1. PubMed ID: 8486380
    [No Abstract] [Full Text] [Related]

  • 49. Prenatal diagnosis of glycogen storage disease type II: enzyme assay or mutation analysis?
    Kleijer WJ, van der Kraan M, Kroos MA, Groener JE, van Diggelen OP, Reuser AJ, van der Ploeg AT.
    Pediatr Res; 1995 Jul 25; 38(1):103-6. PubMed ID: 7478785
    [Abstract] [Full Text] [Related]

  • 50. Deletion of exon 18 is a frequent mutation in glycogen storage disease type II.
    Van der Kraan M, Kroos MA, Joosse M, Bijvoet AG, Verbeet MP, Kleijer WJ, Reuser AJ.
    Biochem Biophys Res Commun; 1994 Sep 30; 203(3):1535-41. PubMed ID: 7945303
    [Abstract] [Full Text] [Related]

  • 51. The identification of five novel mutations in the lysosomal acid a-(1-4) glucosidase gene from patients with glycogen storage disease type II. Mutations in brief no. 134. Online.
    Beesley CE, Child AH, Yacoub MH.
    Hum Mutat; 1998 Sep 30; 11(5):413. PubMed ID: 10206684
    [Abstract] [Full Text] [Related]

  • 52. c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype.
    Morales A, Poling MI, Páez MT, Cabrera J, McCormick RJ.
    BMJ Case Rep; 2015 Jul 09; 2015():. PubMed ID: 26160551
    [Abstract] [Full Text] [Related]

  • 53. Increased occurrence of cleft lip in glycogen storage disease type II (GSDII): exclusion of a contiguous gene syndrome in two patients by presence of intragenic mutations including a novel nonsense mutation Gln58Stop.
    Huie ML, Kasper JS, Arn PH, Greenberg CR, Hirschhorn R.
    Am J Med Genet; 1999 Jul 02; 85(1):5-8. PubMed ID: 10377006
    [Abstract] [Full Text] [Related]

  • 54. Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.
    Kroos M, Pomponio RJ, van Vliet L, Palmer RE, Phipps M, Van der Helm R, Halley D, Reuser A, GAA Database Consortium.
    Hum Mutat; 2008 Jun 02; 29(6):E13-26. PubMed ID: 18425781
    [Abstract] [Full Text] [Related]

  • 55. Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype.
    Kroos MA, Pomponio RJ, Hagemans ML, Keulemans JL, Phipps M, DeRiso M, Palmer RE, Ausems MG, Van der Beek NA, Van Diggelen OP, Halley DJ, Van der Ploeg AT, Reuser AJ.
    Neurology; 2007 Jan 09; 68(2):110-5. PubMed ID: 17210890
    [Abstract] [Full Text] [Related]

  • 56. Molecular diagnosis of German patients with late-onset glycogen storage disease type II.
    Joshi PR, Gläser D, Schmidt S, Vorgerd M, Winterholler M, Eger K, Zierz S, Deschauer M.
    J Inherit Metab Dis; 2008 Dec 09; 31 Suppl 2():S261-5. PubMed ID: 18607768
    [Abstract] [Full Text] [Related]

  • 57. Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation.
    Huie ML, Chen AS, Tsujino S, Shanske S, DiMauro S, Engel AG, Hirschhorn R.
    Hum Mol Genet; 1994 Dec 09; 3(12):2231-6. PubMed ID: 7881425
    [Abstract] [Full Text] [Related]

  • 58. Genetic relationship between lysosomal and lamellar body-specific alpha-glucosidases in human lung.
    de Vries AC, Schram AW, Tager JM, Batenburg JJ, van Golde LM.
    Biochim Biophys Acta; 1986 Sep 12; 878(2):288-91. PubMed ID: 3530334
    [Abstract] [Full Text] [Related]

  • 59. A family with pseudodeficiency of acid alpha-glucosidase.
    Nishimoto J, Inui K, Okada S, Ishigami W, Hirota S, Yamano T, Yabuuchi H.
    Clin Genet; 1988 Apr 12; 33(4):254-61. PubMed ID: 3282727
    [Abstract] [Full Text] [Related]

  • 60. [Pompe's disease--acid alpha-glucosidase deficiency--a review].
    Iwamasa T, Chinen K, Hirayasu T.
    Nihon Rinsho; 1993 Sep 12; 51(9):2324-9. PubMed ID: 8411709
    [Abstract] [Full Text] [Related]

    Page: [Previous] [Next] [New Search]
    of 6.