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307 related items for PubMed ID: 10482961

  • 1. Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling.
    Ausems MG, Verbiest J, Hermans MP, Kroos MA, Beemer FA, Wokke JH, Sandkuijl LA, Reuser AJ, van der Ploeg AT.
    Eur J Hum Genet; 1999 Sep; 7(6):713-6. PubMed ID: 10482961
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. Glycogen-storage disease type II (acid maltase deficiency): identification of a novel small deletion (delCC482+483) in French patients.
    Nicolino M, Puech JP, Letourneur F, Fardeau M, Kahn A, Poenaru L.
    Biochem Biophys Res Commun; 1997 Jun 09; 235(1):138-41. PubMed ID: 9196050
    [Abstract] [Full Text] [Related]

  • 4. 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 Jun 09; 9(1):17-22. PubMed ID: 8990003
    [Abstract] [Full Text] [Related]

  • 5. Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G>C mutation.
    Gort L, Coll MJ, Chabás A.
    Mol Genet Metab; 2007 Jun 09; 92(1-2):183-7. PubMed ID: 17616415
    [Abstract] [Full Text] [Related]

  • 6. Two new missense mutations of GAA in late onset glycogen storage disease type II.
    Park YE, Park KH, Lee CH, Kim CM, Kim DS.
    J Neurol Sci; 2006 Dec 21; 251(1-2):113-7. PubMed ID: 17092519
    [Abstract] [Full Text] [Related]

  • 7. 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 Dec 21; 11(4):306-12. PubMed ID: 9554747
    [Abstract] [Full Text] [Related]

  • 8. 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 21; 23(1):47-56. PubMed ID: 14695532
    [Abstract] [Full Text] [Related]

  • 9. Glycogen storage in multiple muscles of old GSD-II mice can be rapidly cleared after a single intravenous injection with a modified adenoviral vector expressing hGAA.
    Xu F, Ding E, Migone F, Serra D, Schneider A, Chen YT, Amalfitano A.
    J Gene Med; 2005 Feb 21; 7(2):171-8. PubMed ID: 15515143
    [Abstract] [Full Text] [Related]

  • 10. Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited.
    Schoser BG, Müller-Höcker J, Horvath R, Gempel K, Pongratz D, Lochmüller H, Müller-Felber W.
    Neuropathol Appl Neurobiol; 2007 Oct 21; 33(5):544-59. PubMed ID: 17573812
    [Abstract] [Full Text] [Related]

  • 11. Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area.
    Lucchiari S, Fogh I, Prelle A, Parini R, Bresolin N, Melis D, Fiori L, Scarlato G, Comi GP.
    Am J Med Genet; 2002 May 01; 109(3):183-90. PubMed ID: 11977176
    [Abstract] [Full Text] [Related]

  • 12. Pompe disease (glycogen storage disease type II) in Argentineans: clinical manifestations and identification of 9 novel mutations.
    Palmer RE, Amartino HM, Niizawa G, Blanco M, Pomponio RJ, Chamoles NA.
    Neuromuscul Disord; 2007 Jan 01; 17(1):16-22. PubMed ID: 17056254
    [Abstract] [Full Text] [Related]

  • 13. 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]

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

  • 15. 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]

  • 16. Three patients with glycogen storage disease type II and the mutational spectrum of GAA in Korean patients.
    Park HD, Lee DH, Choi TY, Lee YK, Lee SY, Kim JW, Ki CS, Lee YW.
    Ann Clin Lab Sci; 2013 Jan 25; 43(3):311-6. PubMed ID: 23884227
    [Abstract] [Full Text] [Related]

  • 17. The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a.
    Veiga-da-Cunha M, Gerin I, Chen YT, Lee PJ, Leonard JV, Maire I, Wendel U, Vikkula M, Van Schaftingen E.
    Eur J Hum Genet; 1999 Sep 25; 7(6):717-23. PubMed ID: 10482962
    [Abstract] [Full Text] [Related]

  • 18. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug 25; 56(3):105-52. PubMed ID: 19728970
    [Abstract] [Full Text] [Related]

  • 19. Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells.
    Akanuma J, Nishigaki T, Fujii K, Matsubara Y, Inui K, Takahashi K, Kure S, Suzuki Y, Ohura T, Miyabayashi S, Ogawa E, Iinuma K, Okada S, Narisawa K.
    Am J Med Genet; 2000 Mar 13; 91(2):107-12. PubMed ID: 10748407
    [Abstract] [Full Text] [Related]

  • 20. Delayed or late-onset type II glycogenosis with globular inclusions.
    Sharma MC, Schultze C, von Moers A, Stoltenburg-Didinger G, Shin YS, Podskarbi T, Isenhardt K, Tews DS, Goebel HH.
    Acta Neuropathol; 2005 Aug 13; 110(2):151-7. PubMed ID: 15986226
    [Abstract] [Full Text] [Related]

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