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

126 related items for PubMed ID: 1684505

  • 21. 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]

  • 22. 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]

  • 23. 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 Feb 15; 2(4):268-73. PubMed ID: 8401535
    [Abstract] [Full Text] [Related]

  • 24. 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]

  • 25. 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]

  • 26. 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 Dec 18; 11(5):413. PubMed ID: 10206684
    [Abstract] [Full Text] [Related]

  • 27. Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II.
    Hermans MM, van Leenen D, Kroos MA, Beesley CE, Van Der Ploeg AT, Sakuraba H, Wevers R, Kleijer W, Michelakakis H, Kirk EP, Fletcher J, Bosshard N, Basel-Vanagaite L, Besley G, Reuser AJ.
    Hum Mutat; 2004 Jan 18; 23(1):47-56. PubMed ID: 14695532
    [Abstract] [Full Text] [Related]

  • 28. 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]

  • 29. Adeno-associated virus-mediated transfer of human acid maltase gene results in a transient reduction of glycogen accumulation in muscle of Japanese quail with acid maltase deficiency.
    Lin CY, Ho CH, Hsieh YH, Kikuchi T.
    Gene Ther; 2002 May 18; 9(9):554-63. PubMed ID: 11973631
    [Abstract] [Full Text] [Related]

  • 30. Infantile-onset glycogen storage disease type II (Pompe disease): report of a case with genetic diagnosis and pathological findings.
    Teng YT, Su WJ, Hou JW, Huang SF.
    Chang Gung Med J; 2004 May 18; 27(5):379-84. PubMed ID: 15366815
    [Abstract] [Full Text] [Related]

  • 31. Genotype-phenotype correlation in adult-onset acid maltase deficiency.
    Wokke JH, Ausems MG, van den Boogaard MJ, Ippel EF, van Diggelene O, Kroos MA, Boer M, Jennekens FG, Reuser AJ, Ploos van Amstel HK.
    Ann Neurol; 1995 Sep 18; 38(3):450-4. PubMed ID: 7668832
    [Abstract] [Full Text] [Related]

  • 32. Remarkably low fibroblast acid α-glucosidase activity in three adults with Pompe disease.
    Wens SC, Kroos MA, de Vries JM, Hoogeveen-Westerveld M, Wijgerde MG, van Doorn PA, van der Ploeg AT, Reuser AJ.
    Mol Genet Metab; 2012 Nov 18; 107(3):485-9. PubMed ID: 23000108
    [Abstract] [Full Text] [Related]

  • 33. Silent exonic mutation in the acid-alpha-glycosidase gene that causes glycogen storage disease type II by affecting mRNA splicing.
    Maimaiti M, Takahashi S, Okajima K, Suzuki N, Ohinata J, Araki A, Tanaka H, Mukai T, Fujieda K.
    J Hum Genet; 2009 Aug 18; 54(8):493-6. PubMed ID: 19609281
    [Abstract] [Full Text] [Related]

  • 34. Helios gene gun particle delivery for therapy of acid maltase deficiency.
    Martiniuk F, Chen A, Mack A, Donnabella V, Slonim A, Bulone L, Arvanitopoulos E, Raben N, Plotz P, Rom WN.
    DNA Cell Biol; 2002 Oct 18; 21(10):717-25. PubMed ID: 12443541
    [Abstract] [Full Text] [Related]

  • 35. [Clinical and gene mutation analysis of three children with late-onset glycogen storage disease type Ⅱ with hypertrophic cardiomyopathy].
    Luo JH, Qiu WJ, Fang D, Ye J, Han LS, Zhang HW, Yu YG, Liang LL, Gu XF.
    Zhonghua Er Ke Za Zhi; 2017 Jun 02; 55(6):423-427. PubMed ID: 28592009
    [Abstract] [Full Text] [Related]

  • 36. [Application of enzyme assay and gene analysis in the prenatal diagnosis for a family with glycogen storage disease type II].
    Zeng MH, Qiu WJ, Gu XF, Wang Y, Zhou JD, Ye J, Han LS, Zhang HW.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Jun 02; 28(3):261-5. PubMed ID: 21644219
    [Abstract] [Full Text] [Related]

  • 37. 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 02; 10(22):1910-6. PubMed ID: 14502220
    [Abstract] [Full Text] [Related]

  • 38.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 39. Long-term efficacy after [E1-, polymerase-] adenovirus-mediated transfer of human acid-alpha-glucosidase gene into glycogen storage disease type II knockout mice.
    Ding EY, Hodges BL, Hu H, McVie-Wylie AJ, Serra D, Migone FK, Pressley D, Chen YT, Amalfitano A.
    Hum Gene Ther; 2001 May 20; 12(8):955-65. PubMed ID: 11387060
    [Abstract] [Full Text] [Related]

  • 40.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

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