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

200 related items for PubMed ID: 17270480

  • 21. The "muscular variant" of Pompe disease: clinical, biochemical and histologic characteristics.
    Temple JK, Dunn DW, Blitzer MG, Shapira E.
    Am J Med Genet; 1985 Jul; 21(3):597-604. PubMed ID: 3895931
    [Abstract] [Full Text] [Related]

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

  • 23.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 24.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

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

  • 26.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 27. Partial phenotypic correction and immune tolerance induction to enzyme replacement therapy after hematopoietic stem cell gene transfer of alpha-glucosidase in Pompe disease.
    Douillard-Guilloux G, Richard E, Batista L, Caillaud C.
    J Gene Med; 2009 Apr; 11(4):279-87. PubMed ID: 19263466
    [Abstract] [Full Text] [Related]

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

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

  • 30. Late-onset Pompe disease: what is the prevalence of limb-girdle muscular weakness presentation?
    Lorenzoni PJ, Kay CSK, Higashi NS, D'Almeida V, Werneck LC, Scola RH.
    Arq Neuropsiquiatr; 2018 Apr; 76(4):247-251. PubMed ID: 29742245
    [Abstract] [Full Text] [Related]

  • 31. 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; 23(1):47-56. PubMed ID: 14695532
    [Abstract] [Full Text] [Related]

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

  • 33. Delayed diagnosis of late-onset Pompe disease in patients with myopathies of unknown origin and/or hyperCKemia.
    Pérez-López J, Selva-O'Callaghan A, Grau-Junyent JM, Gallego-Galindo L, Coll MJ, García-Morillo S, Torralba-Cabeza MA, Vilardell-Tarrés M.
    Mol Genet Metab; 2015 Apr; 114(4):580-3. PubMed ID: 25752415
    [Abstract] [Full Text] [Related]

  • 34. Newborn screening for Pompe disease by measuring acid alpha-glucosidase activity using tandem mass spectrometry.
    Dajnoki A, Mühl A, Fekete G, Keutzer J, Orsini J, Dejesus V, Zhang XK, Bodamer OA.
    Clin Chem; 2008 Oct; 54(10):1624-9. PubMed ID: 18703766
    [Abstract] [Full Text] [Related]

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

  • 36. Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry.
    Kishnani PS, Amartino HM, Lindberg C, Miller TM, Wilson A, Keutzer J.
    Mol Genet Metab; 2014 Oct; 113(1-2):84-91. PubMed ID: 25085280
    [Abstract] [Full Text] [Related]

  • 37. Molecular analysis and protein processing in late-onset Pompe disease patients with low levels of acid α-glucosidase activity.
    Bali DS, Tolun AA, Goldstein JL, Dai J, Kishnani PS.
    Muscle Nerve; 2011 May; 43(5):665-70. PubMed ID: 21484825
    [Abstract] [Full Text] [Related]

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

  • 39. Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies.
    Preisler N, Lukacs Z, Vinge L, Madsen KL, Husu E, Hansen RS, Duno M, Andersen H, Laub M, Vissing J.
    Mol Genet Metab; 2013 Nov; 110(3):287-9. PubMed ID: 24011652
    [Abstract] [Full Text] [Related]

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

    Page: [Previous] [Next] [New Search]
    of 10.