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249 related items for PubMed ID: 8878432

  • 21. Adeno-associated viral vector-mediated gene transfer results in long-term enzymatic and functional correction in multiple organs of Fabry mice.
    Jung SC, Han IP, Limaye A, Xu R, Gelderman MP, Zerfas P, Tirumalai K, Murray GJ, During MJ, Brady RO, Qasba P.
    Proc Natl Acad Sci U S A; 2001 Feb 27; 98(5):2676-81. PubMed ID: 11226298
    [Abstract] [Full Text] [Related]

  • 22. [Mutation of the alpha-galactosidase A gene in two unusual variations of Fabray's disease].
    Beĭer EM, Kopishinskaia SV, Ploos van Amstel JK, Tsvetkova IV.
    Vopr Med Khim; 1999 Feb 27; 45(4):346-9. PubMed ID: 10547886
    [Abstract] [Full Text] [Related]

  • 23.
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  • 24. Clinical and molecular characterization of an extended family with Fabry disease.
    Wattanasirichaigoon D, Svasti J, Cairns JR, Tangnararatchakit K, Visudtibhan A, Keeratichamroen S, Ngiwsara L, Khowsathit P, Onkoksoong T, Lekskul A, Mongkolsiri D, Jariengprasert C, Thawil C, Ruencharoen S.
    J Med Assoc Thai; 2006 Sep 27; 89(9):1528-35. PubMed ID: 17100396
    [Abstract] [Full Text] [Related]

  • 25. [Fabry disease (alpha-galactosidase deficiency)].
    Okumiya T, Sakuraba H.
    Nihon Rinsho; 1995 Dec 27; 53(12):2952-9. PubMed ID: 8577042
    [Abstract] [Full Text] [Related]

  • 26. 4-Phenylbutyrate rescues trafficking incompetent mutant alpha-galactosidase A without restoring its functionality.
    Yam GH, Roth J, Zuber C.
    Biochem Biophys Res Commun; 2007 Aug 24; 360(2):375-80. PubMed ID: 17592721
    [Abstract] [Full Text] [Related]

  • 27. Novel α-galactosidase A mutation in patients with severe cardiac manifestations of Fabry disease.
    Duro G, Musumeci MB, Colomba P, Zizzo C, Albeggiani G, Mastromarino V, Volpe M, Autore C.
    Gene; 2014 Feb 10; 535(2):365-9. PubMed ID: 24140492
    [Abstract] [Full Text] [Related]

  • 28. Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease.
    Okumiya T, Ishii S, Takenaka T, Kase R, Kamei S, Sakuraba H, Suzuki Y.
    Biochem Biophys Res Commun; 1995 Sep 25; 214(3):1219-24. PubMed ID: 7575533
    [Abstract] [Full Text] [Related]

  • 29. Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin.
    Ishii S, Chang HH, Kawasaki K, Yasuda K, Wu HL, Garman SC, Fan JQ.
    Biochem J; 2007 Sep 01; 406(2):285-95. PubMed ID: 17555407
    [Abstract] [Full Text] [Related]

  • 30. Novel alpha-galactosidase A mutation in a female with recurrent strokes.
    Tuttolomondo A, Duro G, Miceli S, Di Raimondo D, Pecoraro R, Serio A, Albeggiani G, Nuzzo D, Iemolo F, Pizzo F, Sciarrino S, Licata G, Pinto A.
    Clin Biochem; 2012 Nov 01; 45(16-17):1525-30. PubMed ID: 22820434
    [Abstract] [Full Text] [Related]

  • 31. Fabry disease: molecular carrier detection and prenatal diagnosis by analysis of closely linked polymorphisms at Xq22.1.
    Caggana M, Ashley GA, Desnick RJ, Eng CM.
    Am J Med Genet; 1997 Aug 22; 71(3):329-35. PubMed ID: 9268104
    [Abstract] [Full Text] [Related]

  • 32. Transgenic mouse expressing human mutant alpha-galactosidase A in an endogenous enzyme deficient background: a biochemical animal model for studying active-site specific chaperone therapy for Fabry disease.
    Ishii S, Yoshioka H, Mannen K, Kulkarni AB, Fan JQ.
    Biochim Biophys Acta; 2004 Nov 05; 1690(3):250-7. PubMed ID: 15511632
    [Abstract] [Full Text] [Related]

  • 33. Preselective gene therapy for Fabry disease.
    Qin G, Takenaka T, Telsch K, Kelley L, Howard T, Levade T, Deans R, Howard BH, Malech HL, Brady RO, Medin JA.
    Proc Natl Acad Sci U S A; 2001 Mar 13; 98(6):3428-33. PubMed ID: 11248095
    [Abstract] [Full Text] [Related]

  • 34. Long-term systemic therapy of Fabry disease in a knockout mouse by adeno-associated virus-mediated muscle-directed gene transfer.
    Takahashi H, Hirai Y, Migita M, Seino Y, Fukuda Y, Sakuraba H, Kase R, Kobayashi T, Hashimoto Y, Shimada T.
    Proc Natl Acad Sci U S A; 2002 Oct 15; 99(21):13777-82. PubMed ID: 12370426
    [Abstract] [Full Text] [Related]

  • 35. Pseudodeficiency of alpha-galactosidase A.
    Bach G, Rosenmann E, Karni A, Cohen T.
    Clin Genet; 1982 Jan 15; 21(1):59-64. PubMed ID: 6279339
    [Abstract] [Full Text] [Related]

  • 36. Identification of novel mutations in the α-galactosidase A gene in patients with Fabry disease: pitfalls of mutation analyses in patients with low α-galactosidase A activity.
    Yoshimitsu M, Higuchi K, Miyata M, Devine S, Mattman A, Sirrs S, Medin JA, Tei C, Takenaka T.
    J Cardiol; 2011 May 15; 57(3):345-53. PubMed ID: 21333496
    [Abstract] [Full Text] [Related]

  • 37. Disease manifestations and X inactivation in heterozygous females with Fabry disease.
    Maier EM, Osterrieder S, Whybra C, Ries M, Gal A, Beck M, Roscher AA, Muntau AC.
    Acta Paediatr Suppl; 2006 Apr 15; 95(451):30-8. PubMed ID: 16720462
    [Abstract] [Full Text] [Related]

  • 38. A 3' splice site consensus sequence mutation in the intron 3 of the alpha-galactosidase A gene in a patient with Fabry disease.
    Yokoi T, Shinoda K, Ohno I, Kato K, Miyawaki T, Taniguchi N.
    Jinrui Idengaku Zasshi; 1991 Sep 15; 36(3):245-50. PubMed ID: 1753437
    [Abstract] [Full Text] [Related]

  • 39. Accelerated transport and maturation of lysosomal alpha-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor.
    Fan JQ, Ishii S, Asano N, Suzuki Y.
    Nat Med; 1999 Jan 15; 5(1):112-5. PubMed ID: 9883849
    [Abstract] [Full Text] [Related]

  • 40. Long-term enzyme correction and lipid reduction in multiple organs of primary and secondary transplanted Fabry mice receiving transduced bone marrow cells.
    Takenaka T, Murray GJ, Qin G, Quirk JM, Ohshima T, Qasba P, Clark K, Kulkarni AB, Brady RO, Medin JA.
    Proc Natl Acad Sci U S A; 2000 Jun 20; 97(13):7515-20. PubMed ID: 10840053
    [Abstract] [Full Text] [Related]

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