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184 related items for PubMed ID: 2959149

  • 1. Tay-Sachs disease with hexosaminidase A: characterization of the defective enzyme in two patients.
    Bayleran J, Hechtman P, Kolodny E, Kaback M.
    Am J Hum Genet; 1987 Oct; 41(4):532-48. PubMed ID: 2959149
    [Abstract] [Full Text] [Related]

  • 2. Synthesis of 4-methylumbelliferyl-beta-D-N-acetylglucosamine-6-sulfate and its use in classification of GM2 gangliosidosis genotypes.
    Bayleran J, Hechtman P, Saray W.
    Clin Chim Acta; 1984 Nov 15; 143(2):73-89. PubMed ID: 6239713
    [Abstract] [Full Text] [Related]

  • 3. The mutation mechanism causing juvenile-onset Tay-Sachs disease among Lebanese.
    Hechtman P, Boulay B, Bayleran J, Andermann E.
    Clin Genet; 1989 May 15; 35(5):364-75. PubMed ID: 2527097
    [Abstract] [Full Text] [Related]

  • 4. A new form of residual hexosaminidase activity in infantile Tay Sachs disease fibroblasts.
    Hechtman P, Khoo K, Isaacs C.
    Clin Genet; 1983 Sep 15; 24(3):206-15. PubMed ID: 6226462
    [Abstract] [Full Text] [Related]

  • 5. Identification of candidate active site residues in lysosomal beta-hexosaminidase A.
    Fernandes MJ, Yew S, Leclerc D, Henrissat B, Vorgias CE, Gravel RA, Hechtman P, Kaplan F.
    J Biol Chem; 1997 Jan 10; 272(2):814-20. PubMed ID: 8995368
    [Abstract] [Full Text] [Related]

  • 6. Crystallographic structure of human beta-hexosaminidase A: interpretation of Tay-Sachs mutations and loss of GM2 ganglioside hydrolysis.
    Lemieux MJ, Mark BL, Cherney MM, Withers SG, Mahuran DJ, James MN.
    J Mol Biol; 2006 Jun 16; 359(4):913-29. PubMed ID: 16698036
    [Abstract] [Full Text] [Related]

  • 7. Restoration of hexosaminidase A activity in human Tay-Sachs fibroblasts via adenoviral vector-mediated gene transfer.
    Akli S, Guidotti JE, Vigne E, Perricaudet M, Sandhoff K, Kahn A, Poenaru L.
    Gene Ther; 1996 Sep 16; 3(9):769-74. PubMed ID: 8875224
    [Abstract] [Full Text] [Related]

  • 8. Common HEXB polymorphisms reduce serum HexA and HexB enzymatic activities, potentially masking Tay-Sachs disease carrier identification.
    Vallance H, Morris TJ, Coulter-Mackie M, Lim-Steele J, Kaback M.
    Mol Genet Metab; 2006 Feb 16; 87(2):122-7. PubMed ID: 16352452
    [Abstract] [Full Text] [Related]

  • 9. W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis.
    Petroulakis E, Cao Z, Clarke JT, Mahuran DJ, Lee G, Triggs-Raine B.
    Hum Mutat; 1998 Feb 16; 11(6):432-42. PubMed ID: 9603435
    [Abstract] [Full Text] [Related]

  • 10. beta-hexosaminidase in cultured normal and mutant human fibroblasts: an immunohistochemical and biochemical investigation.
    Elsafi ME, Elbashir MI, Hultberg B, Isaksson A, Hägerstrand I, Stenram U.
    Scand J Clin Lab Invest; 1991 Dec 16; 51(8):711-4. PubMed ID: 1839650
    [Abstract] [Full Text] [Related]

  • 11. GM2 gangliosidosis B1 variant: biochemical and molecular characterization of hexosaminidase A.
    Peleg L, Meltzer F, Karpati M, Goldman B.
    Biochem Mol Med; 1995 Apr 16; 54(2):126-32. PubMed ID: 8581357
    [Abstract] [Full Text] [Related]

  • 12. Heterozygosity for Tay-Sachs disease in non-Jewish Americans with ancestry from Ireland or Great Britain.
    van Bael M, Natowicz MR, Tomczak J, Grebner EE, Prence EM.
    J Med Genet; 1996 Oct 16; 33(10):829-32. PubMed ID: 8933335
    [Abstract] [Full Text] [Related]

  • 13. Late onset GM2 gangliosidosis: an alpha-locus genetic compound with near normal hexosaminidase activity.
    Charrow J, Inui K, Wenger DA.
    Clin Genet; 1985 Jan 16; 27(1):78-84. PubMed ID: 3156697
    [Abstract] [Full Text] [Related]

  • 14. A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies.
    Akerman BR, Zielenski J, Triggs-Raine BL, Prence EM, Natowicz MR, Lim-Steele JS, Kaback MM, Mules EH, Thomas GH, Clarke JT.
    Hum Mutat; 1992 Jan 16; 1(4):303-9. PubMed ID: 1301938
    [Abstract] [Full Text] [Related]

  • 15. In situ assessment of beta-hexosaminidase activity.
    Lacorazza HD, Jendoubi M.
    Biotechniques; 1995 Sep 16; 19(3):434-40. PubMed ID: 7495557
    [Abstract] [Full Text] [Related]

  • 16. Unusual thermolability properties of beta-hexosaminidase: studies of enzyme from cultured cells and clinical implications.
    Prence EM, Zalewski I, Natowicz MR.
    Am J Med Genet; 1996 Nov 11; 65(4):320-4. PubMed ID: 8923943
    [Abstract] [Full Text] [Related]

  • 17. A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family.
    Trop I, Kaplan F, Brown C, Mahuran D, Hechtman P.
    Hum Mutat; 1992 Nov 11; 1(1):35-9. PubMed ID: 1301189
    [Abstract] [Full Text] [Related]

  • 18. Prenatal Diagnosis of Tay-Sachs Disease.
    Zhang J, Chen H, Kornreich R, Yu C.
    Methods Mol Biol; 2019 Nov 11; 1885():233-250. PubMed ID: 30506202
    [Abstract] [Full Text] [Related]

  • 19. Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England.
    Triggs-Raine B, Richard M, Wasel N, Prence EM, Natowicz MR.
    Am J Hum Genet; 1995 Apr 11; 56(4):870-9. PubMed ID: 7717398
    [Abstract] [Full Text] [Related]

  • 20. Detection of Tay-Sachs disease carriers among individuals with thermolabile hexosaminidase B.
    Peleg L, Goldman B.
    Eur J Clin Chem Clin Biochem; 1994 Feb 11; 32(2):65-9. PubMed ID: 8003579
    [Abstract] [Full Text] [Related]

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