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Journal Abstract Search

284 related items for PubMed ID: 6263521

  • 1. Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry's disease.
    Mayes JS, Scheerer JB, Sifers RN, Donaldson ML.
    Clin Chim Acta; 1981 May 05; 112(2):247-51. PubMed ID: 6263521
    [Abstract] [Full Text] [Related]

  • 2. 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 May 05; 2(1):9-12. PubMed ID: 6273649
    [Abstract] [Full Text] [Related]

  • 3. Relationship of the multiple forms of human alpha-D-galactosidase and alpha-D-fucosidase in the normal and in Fabry's disease.
    Beyer E, Schono N, Kozlova I, Wiederschain G.
    Biochim Biophys Acta; 1990 May 08; 1038(3):386-9. PubMed ID: 2160280
    [Abstract] [Full Text] [Related]

  • 4. [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 08; 32(4):269-84. PubMed ID: 6326022
    [Abstract] [Full Text] [Related]

  • 5. Detection of Fabry's disease heterozygotes by hair root analysis.
    Beaudet AL, Caskey CT.
    Clin Genet; 1978 Mar 08; 13(3):251-8. PubMed ID: 205381
    [Abstract] [Full Text] [Related]

  • 6. [Substrate specificity of multiple forms of human alpha-D-galactosidase and alpha-D-fucosidase].
    Baskaeva EM, Shono NI, Kozlova IK, Vidershaĭn GIa.
    Biokhimiia; 1989 Mar 08; 54(3):421-6. PubMed ID: 2546612
    [Abstract] [Full Text] [Related]

  • 7. 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 08; 23(4):261-6. PubMed ID: 6303650
    [Abstract] [Full Text] [Related]

  • 8. Synthesis and processing of alpha-galactosidase A in human fibroblasts. Evidence for different mutations in Fabry disease.
    Lemansky P, Bishop DF, Desnick RJ, Hasilik A, von Figura K.
    J Biol Chem; 1987 Feb 15; 262(5):2062-5. PubMed ID: 3029062
    [Abstract] [Full Text] [Related]

  • 9. The fate of internalized alpha-2-macroglobulin: alpha-galactosidase conjugate in fibroblasts from Fabry's hemizygote.
    Osada T, Kuroda Y, Ikai A.
    Biochem Biophys Res Commun; 1987 Mar 30; 143(3):954-8. PubMed ID: 2436620
    [Abstract] [Full Text] [Related]

  • 10. Loss of electron-dense lamellar material from Fabry's disease fibroblasts after enzyme replacement.
    Sifers RN, Mayes JS, Nordquist RE.
    Hum Genet; 1983 Mar 30; 65(1):85-7. PubMed ID: 6315565
    [Abstract] [Full Text] [Related]

  • 11. Detection of Fabry's disease carriers by enzyme assay of hair roots.
    Hatton CE, Cooper A, Sardharwalla IB.
    J Inherit Metab Dis; 1989 Mar 30; 12 Suppl 2():369-71. PubMed ID: 2556612
    [No Abstract] [Full Text] [Related]

  • 12. Residual activity of alpha-galactosidase A in Fabry's disease.
    Romeo G, D'Urso M, Pisacane A, Blum E, De Falco A, Ruffilli A.
    Biochem Genet; 1975 Oct 30; 13(9-10):615-28. PubMed ID: 812485
    [Abstract] [Full Text] [Related]

  • 13. Studies on human liver alpha-galactosidases. II. Purification and enzymatic properties of alpha-galactosidase B (alpha-N-acetylgalactosaminidase).
    Dean KJ, Sweeley CC.
    J Biol Chem; 1979 Oct 25; 254(20):10001-5. PubMed ID: 226532
    [No Abstract] [Full Text] [Related]

  • 14. Fabry's disease: biochemical and histochemical studies on hair roots for carrier detection.
    Vermorken AJ, Weterings PJ, Spierenburg GT, vanBennekom CA, Wirtz P, deBruyn CH, Oei TL.
    Br J Dermatol; 1978 Feb 25; 98(2):191-6. PubMed ID: 204324
    [Abstract] [Full Text] [Related]

  • 15. Molecular pathology of Fabry's disease. Physical and kinetic properties of alpha-galactosidase A in cultured human endothelial cells.
    Johnson DL, Desnick RJ.
    Biochim Biophys Acta; 1978 Jan 18; 538(2):195-204. PubMed ID: 23178
    [No Abstract] [Full Text] [Related]

  • 16. 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
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  • 20. A microtechnique for quantitative measurements of acid hydrolases in fibroblasts. Its application in diagnosis of Fabry disease and enzyme replacement studies.
    Hasholt L, Sørensen SA.
    Clin Chim Acta; 1984 Sep 29; 142(2):257-61. PubMed ID: 6094040
    [No Abstract] [Full Text] [Related]

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