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Journal Abstract Search

323 related items for PubMed ID: 18848893

  • 41. Neuropathy and Fabry disease: pathogenesis and enzyme replacement therapy.
    Schiffmann R.
    Acta Neurol Belg; 2006 Jun; 106(2):61-5. PubMed ID: 16898255
    [Abstract] [Full Text] [Related]

  • 42. The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: a cross-sectional study of a large cohort of clinically affected heterozygous women.
    Gupta S, Ries M, Kotsopoulos S, Schiffmann R.
    Medicine (Baltimore); 2005 Sep; 84(5):261-268. PubMed ID: 16148726
    [Abstract] [Full Text] [Related]

  • 43. Fabry disease: cardiac manifestations and therapeutic options.
    Pierre-Louis B, Kumar A, Frishman WH.
    Cardiol Rev; 2009 Sep; 17(1):31-5. PubMed ID: 19092368
    [Abstract] [Full Text] [Related]

  • 44. Remarkable variability in renal disease in a large Slovenian family with Fabry disease.
    Verovnik F, Benko D, Vujkovac B, Linthorst GE.
    Eur J Hum Genet; 2004 Aug; 12(8):678-81. PubMed ID: 15162124
    [Abstract] [Full Text] [Related]

  • 45. A successful approach for the detection of Fabry patients in Argentina.
    Rozenfeld PA, Tarabuso A, Ebner R, Ramallo G, Fossati CA.
    Clin Genet; 2006 Apr; 69(4):344-8. PubMed ID: 16630168
    [Abstract] [Full Text] [Related]

  • 46. Local and global cerebral blood flow and glucose utilization in the alpha-galactosidase A knockout mouse model of Fabry disease.
    Itoh Y, Esaki T, Cook M, Qasba P, Shimoji K, Alroy J, Brady RO, Sokoloff L, Moore DF.
    J Neurochem; 2001 Dec; 79(6):1217-24. PubMed ID: 11752062
    [Abstract] [Full Text] [Related]

  • 47. 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; 5(1):112-5. PubMed ID: 9883849
    [Abstract] [Full Text] [Related]

  • 48. Terminal stage cardiac findings in patients with cardiac Fabry disease: an electrocardiographic, echocardiographic, and autopsy study.
    Takenaka T, Teraguchi H, Yoshida A, Taguchi S, Ninomiya K, Umekita Y, Yoshida H, Horinouchi M, Tabata K, Yonezawa S, Yoshimitsu M, Higuchi K, Nakao S, Anan R, Minagoe S, Tei C.
    J Cardiol; 2008 Feb; 51(1):50-9. PubMed ID: 18522775
    [Abstract] [Full Text] [Related]

  • 49. Cardiac microvascular pathology in Fabry disease: evaluation of endomyocardial biopsies before and after enzyme replacement therapy.
    Thurberg BL, Fallon JT, Mitchell R, Aretz T, Gordon RE, O'Callaghan MW.
    Circulation; 2009 May 19; 119(19):2561-7. PubMed ID: 19414635
    [Abstract] [Full Text] [Related]

  • 50. The molecular defect leading to Fabry disease: structure of human alpha-galactosidase.
    Garman SC, Garboczi DN.
    J Mol Biol; 2004 Mar 19; 337(2):319-35. PubMed ID: 15003450
    [Abstract] [Full Text] [Related]

  • 51. Peripheral nerve conduction in Fabry disease.
    Sheth KJ, Swick HM.
    Ann Neurol; 1980 Apr 19; 7(4):319-23. PubMed ID: 6246835
    [Abstract] [Full Text] [Related]

  • 52. Tissue and plasma globotriaosylsphingosine could be a biomarker for assessing enzyme replacement therapy for Fabry disease.
    Togawa T, Kawashima I, Kodama T, Tsukimura T, Suzuki T, Fukushige T, Kanekura T, Sakuraba H.
    Biochem Biophys Res Commun; 2010 Sep 03; 399(4):716-20. PubMed ID: 20692233
    [Abstract] [Full Text] [Related]

  • 53. Physiological characterization of neuropathy in Fabry's disease.
    Luciano CA, Russell JW, Banerjee TK, Quirk JM, Scott LJ, Dambrosia JM, Barton NW, Schiffmann R.
    Muscle Nerve; 2002 Nov 03; 26(5):622-9. PubMed ID: 12402283
    [Abstract] [Full Text] [Related]

  • 54. Transthyretin enhances nerve regeneration.
    Fleming CE, Saraiva MJ, Sousa MM.
    J Neurochem; 2007 Oct 03; 103(2):831-9. PubMed ID: 17897357
    [Abstract] [Full Text] [Related]

  • 55. 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]

  • 56. Aging accentuates and bone marrow transplantation ameliorates metabolic defects in Fabry disease mice.
    Ohshima T, Schiffmann R, Murray GJ, Kopp J, Quirk JM, Stahl S, Chan CC, Zerfas P, Tao-Cheng JH, Ward JM, Brady RO, Kulkarni AB.
    Proc Natl Acad Sci U S A; 1999 May 25; 96(11):6423-7. PubMed ID: 10339603
    [Abstract] [Full Text] [Related]

  • 57. Systemic mRNA Therapy for the Treatment of Fabry Disease: Preclinical Studies in Wild-Type Mice, Fabry Mouse Model, and Wild-Type Non-human Primates.
    Zhu X, Yin L, Theisen M, Zhuo J, Siddiqui S, Levy B, Presnyak V, Frassetto A, Milton J, Salerno T, Benenato KE, Milano J, Lynn A, Sabnis S, Burke K, Besin G, Lukacs CM, Guey LT, Finn PF, Martini PGV.
    Am J Hum Genet; 2019 Apr 04; 104(4):625-637. PubMed ID: 30879639
    [Abstract] [Full Text] [Related]

  • 58. Morphological and biochemical changes in muscle and peripheral nerve in Fabry's disease.
    Pellissier JF, Van Hoof F, Bourdet-Bonerandi D, Monier-Faugere MC, Toga M.
    Muscle Nerve; 1981 Apr 04; 4(5):381-7. PubMed ID: 6793867
    [Abstract] [Full Text] [Related]

  • 59. Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma.
    Froissart R, Guffon N, Vanier MT, Desnick RJ, Maire I.
    Mol Genet Metab; 2003 Nov 04; 80(3):307-14. PubMed ID: 14680977
    [Abstract] [Full Text] [Related]

  • 60. Comprehensive and differential long-term characterization of the alpha-galactosidase A deficient mouse model of Fabry disease focusing on the sensory system and pain development.
    Üçeyler N, Biko L, Hose D, Hofmann L, Sommer C.
    Mol Pain; 2016 Nov 04; 12():. PubMed ID: 27145802
    [Abstract] [Full Text] [Related]

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