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470 related items for PubMed ID: 15947062

  • 1. Megadolichobasilar anomaly with thrombosis in a family with Fabry's disease and a novel mutation in the alpha-galactosidase A gene.
    Garzuly F, Maródi L, Erdös M, Grubits J, Varga Z, Gelpi E, Rohonyi B, Mázló M, Molnár A, Budka H.
    Brain; 2005 Sep; 128(Pt 9):2078-83. PubMed ID: 15947062
    [Abstract] [Full Text] [Related]

  • 2. Cerebral hemorrhage in Fabry's disease.
    Nakamura K, Sekijima Y, Nakamura K, Hattori K, Nagamatsu K, Shimizu Y, Yasude T, Ushiyama M, Endo F, Fukushima Y, Ikeda S.
    J Hum Genet; 2010 Apr; 55(4):259-61. PubMed ID: 20300124
    [Abstract] [Full Text] [Related]

  • 3. [Fabry disease in light of recent review].
    Uyama E.
    Brain Nerve; 2008 Nov; 60(11):1235-44. PubMed ID: 19069157
    [Abstract] [Full Text] [Related]

  • 4. Association of renal ectopia with Fabry's disease in 3 patients.
    Rákóczi E, Tóth B, Görögh S, Erdos M, Sümegi J, Maródi L.
    J Urol; 2009 Apr; 181(4):1949-54. PubMed ID: 19237168
    [Abstract] [Full Text] [Related]

  • 5. An atypical variant of Fabry's disease in men with left ventricular hypertrophy.
    Nakao S, Takenaka T, Maeda M, Kodama C, Tanaka A, Tahara M, Yoshida A, Kuriyama M, Hayashibe H, Sakuraba H.
    N Engl J Med; 1995 Aug 03; 333(5):288-93. PubMed ID: 7596372
    [Abstract] [Full Text] [Related]

  • 6. [Fabry disease: data from four families].
    Slee PH, van Boven LJ, Slee DS.
    Ned Tijdschr Geneeskd; 2000 Dec 09; 144(50):2412-5. PubMed ID: 11145098
    [Abstract] [Full Text] [Related]

  • 7. Two-tier approach for the detection of alpha-galactosidase A deficiency in a predominantly female haemodialysis population.
    Terryn W, Poppe B, Wuyts B, Claes K, Maes B, Verbeelen D, Vanholder R, De Boeck K, Lameire N, De Paepe A, De Schoenmakere G.
    Nephrol Dial Transplant; 2008 Jan 09; 23(1):294-300. PubMed ID: 17804462
    [Abstract] [Full Text] [Related]

  • 8. [Ocular findings in Fabry's disease].
    Kuzman T, Juri J, Mrsić M, Jeren-Strujić B, Mandić Z, Sikić J.
    Acta Med Croatica; 2006 Jan 09; 60(2):163-6. PubMed ID: 16848212
    [Abstract] [Full Text] [Related]

  • 9. Neurological manifestations in Fabry's disease.
    Møller AT, Jensen TS.
    Nat Clin Pract Neurol; 2007 Feb 09; 3(2):95-106. PubMed ID: 17279083
    [Abstract] [Full Text] [Related]

  • 10. [A case of Fabry's disease with chronic renal failure].
    Suzuki T, Fujino T, Sugasawa M, Kohara Y, Toyama K, Sato T, Yasuda T, Sugiyama M, Maeba T, Owada S, Ishida M.
    Nihon Jinzo Gakkai Shi; 1999 Jun 09; 41(4):448-53. PubMed ID: 10441995
    [Abstract] [Full Text] [Related]

  • 11. Identification of Fabry's disease by the screening of alpha-galactosidase A activity in male and female hemodialysis patients.
    Tanaka M, Ohashi T, Kobayashi M, Eto Y, Miyamura N, Nishida K, Araki E, Itoh K, Matsushita K, Hara M, Kuwahara K, Nakano T, Yasumoto N, Nonoguchi H, Tomita K.
    Clin Nephrol; 2005 Oct 09; 64(4):281-7. PubMed ID: 16240899
    [Abstract] [Full Text] [Related]

  • 12. [Enzyme replacement therapy in Fabry's disease].
    Alvarez L, del Pozo C, Trigueros M, Sánchez L, Albero MD, López-Menchero R, Ortega E.
    Nefrologia; 2005 Oct 09; 25(3):322-7. PubMed ID: 16053014
    [Abstract] [Full Text] [Related]

  • 13. Molecular genetic, biochemical, and clinical studies in three families with cardiac Fabry's disease.
    Yoshitama T, Nakao S, Takenaka T, Teraguchi H, Sasaki T, Kodama C, Tanaka A, Kisanuki A, Tei C.
    Am J Cardiol; 2001 Jan 01; 87(1):71-5. PubMed ID: 11137837
    [Abstract] [Full Text] [Related]

  • 14. [Fabry's disease (alpha-galactosidase-A deficiency): recent therapeutic innovations].
    Germain DP.
    J Soc Biol; 2002 Jan 01; 196(2):183-90. PubMed ID: 12360747
    [Abstract] [Full Text] [Related]

  • 15. Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.
    Shabbeer J, Robinson M, Desnick RJ.
    Hum Mutat; 2005 Mar 01; 25(3):299-305. PubMed ID: 15712228
    [Abstract] [Full Text] [Related]

  • 16. Fabry's disease: long-term study of a family.
    Arias Martínez N, Barbado Hernández FJ, García Consuegra J, López Rodríguez M, Gil Guerrero L, Gómez-Cerezo J, Casal Esteban V, Vázquez Rodríguez JJ.
    Eur J Intern Med; 2004 Jul 01; 15(4):210-215. PubMed ID: 15288673
    [Abstract] [Full Text] [Related]

  • 17. A novel small insertion mutation, C.1030_1031ins (T) in α-galactosidase A leads to renal variant fabry disease.
    Choi JS, Kim CS, Park JW, Bae EH, Ma SK, Choi YD, Kim GH, Yoo HW, Kim SW.
    Ren Fail; 2012 Jul 01; 34(3):390-3. PubMed ID: 22260214
    [Abstract] [Full Text] [Related]

  • 18. 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 01; 80(3):307-14. PubMed ID: 14680977
    [Abstract] [Full Text] [Related]

  • 19. [Fabry's disease; towards a treatment].
    Linthorst GE, Hollak CE, Bosman DK, Heymans HS, Aerts JM.
    Ned Tijdschr Geneeskd; 2000 Dec 09; 144(50):2391-5. PubMed ID: 11145093
    [Abstract] [Full Text] [Related]

  • 20. Fabry's disease.
    Adam T, Alexandrescu L, Voinea F, Toringhibel M, Hâncu A.
    Rom J Intern Med; 2006 Dec 09; 44(4):455-64. PubMed ID: 18386622
    [Abstract] [Full Text] [Related]

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