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Journal Abstract Search

133 related items for PubMed ID: 2855953

  • 1. [Alpha-galactosidase A deficiency--Fabry's disease].
    Tsuji S.
    Tanpakushitsu Kakusan Koso; 1988 Apr; 33(5):745-8. PubMed ID: 2855953
    [No Abstract] [Full Text] [Related]

  • 2. The gene encoding alpha-galactosidase A and gene rearrangements causing Fabry disease.
    Kornreich R, Bishop DF, Desnick RJ.
    Trans Assoc Am Physicians; 1989 Apr; 102():30-43. PubMed ID: 2561643
    [No Abstract] [Full Text] [Related]

  • 3. [Molecular genetics of Fabry disease].
    Sakuraba H.
    Seikagaku; 1989 Apr; 61(4):294-9. PubMed ID: 2545800
    [No Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. 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]

  • 6. [Neuropathic pain in a young female patient with Fabry's disease: a new mutation of the alpha-galactosidase A gene].
    Politei JM, Pagano MA, Dubrovsky A, Pereira F, Matte U, Burin M, Giugliani R.
    Rev Neurol; 2010 Apr; 41(8):506-7. PubMed ID: 16224739
    [No Abstract] [Full Text] [Related]

  • 7. Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families with Fabry's disease.
    Madsen KM, Hasholt L, Sørensen SA, Fermér ML, Dahl N.
    Hum Mutat; 1995 Apr; 5(3):277-8. PubMed ID: 7599642
    [No Abstract] [Full Text] [Related]

  • 8. Heterozygote detection in Fabry disease utilizing multiple enzyme activities.
    Sheth KJ, Good TA, Murphy JV.
    Am J Med Genet; 1981 Apr; 10(2):141-6. PubMed ID: 6274191
    [Abstract] [Full Text] [Related]

  • 9. A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser.
    Koide T, Ishiura M, Iwai K, Inoue M, Kaneda Y, Okada Y, Uchida T.
    FEBS Lett; 1990 Jan 01; 259(2):353-6. PubMed ID: 2152885
    [Abstract] [Full Text] [Related]

  • 10. [Cardiac Fabry's disease].
    Nakao S, Tanaka H.
    Ryoikibetsu Shokogun Shirizu; 1996 Jan 01; (14):119-24. PubMed ID: 9047812
    [No Abstract] [Full Text] [Related]

  • 11. Detection of Fabry's disease heterozygotes by enzyme analysis in single fibroblasts after cell sorting.
    Jongkind JF, Verkerk A, Niermeijer MF.
    Clin Genet; 1983 Apr 01; 23(4):261-6. PubMed ID: 6303650
    [Abstract] [Full Text] [Related]

  • 12. [Heterozygous Fabry's disease. Case report with electron microscopic studies].
    Luderschmidt C, Wolff HH.
    Hautarzt; 1980 Jul 01; 31(7):372-5. PubMed ID: 6249775
    [Abstract] [Full Text] [Related]

  • 13. An atypical variant of Fabry's disease with manifestations confined to the myocardium.
    von Scheidt W, Eng CM, Fitzmaurice TF, Erdmann E, Hübner G, Olsen EG, Christomanou H, Kandolf R, Bishop DF, Desnick RJ.
    N Engl J Med; 1991 Feb 07; 324(6):395-9. PubMed ID: 1846223
    [No Abstract] [Full Text] [Related]

  • 14. [Partial deletion of alpha-galactosidase A gene in a Japanese mutant of Fabry disease].
    Sakuraba H, Bishop DF, Suzuki T, Suzuki Y, Desnick RJ.
    No To Hattatsu; 1990 May 07; 22(3):247-52. PubMed ID: 2163664
    [Abstract] [Full Text] [Related]

  • 15. [Biochemical and pathological studies on a carrier of Fabry's disease manifesting bouts of pain in the extremities].
    Katayama M, Kobayashi T, Ohnishi A, Goto I, Kuroiwa Y.
    Rinsho Shinkeigaku; 1984 Jun 07; 24(6):575-80. PubMed ID: 6094070
    [No Abstract] [Full Text] [Related]

  • 16. [Alpha-galactosidases and alpha-N-acetylgalactosaminidase. Biochemical bases of Fabry's disease].
    Salvayre R, Negre A, Maret A, Douste-Blazy L.
    Pathol Biol (Paris); 1984 Apr 07; 32(4):269-84. PubMed ID: 6326022
    [Abstract] [Full Text] [Related]

  • 17. Cardiac manifestations of Fabry's disease: a story of mother and son.
    Moses H, Yarnoz MJ, Guglin M.
    Congest Heart Fail; 2009 Apr 07; 15(2):93-5. PubMed ID: 19379456
    [No Abstract] [Full Text] [Related]

  • 18. [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 Apr 07; 25(3):322-7. PubMed ID: 16053014
    [Abstract] [Full Text] [Related]

  • 19. Fibroblast alpha-galactosidase A activity for identification of Fabry's disease heterozygotes.
    Fensom AH, Benson PF, Grant AR, Jacobs L.
    J Inherit Metab Dis; 1980 Apr 07; 2(1):9-12. PubMed ID: 6273649
    [Abstract] [Full Text] [Related]

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