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Journal Abstract Search

188 related items for PubMed ID: 1839650

  • 1.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 2. Crystal structure of human beta-hexosaminidase B: understanding the molecular basis of Sandhoff and Tay-Sachs disease.
    Mark BL, Mahuran DJ, Cherney MM, Zhao D, Knapp S, James MN.
    J Mol Biol; 2003 Apr 11; 327(5):1093-109. PubMed ID: 12662933
    [Abstract] [Full Text] [Related]

  • 3. A new form of residual hexosaminidase activity in infantile Tay Sachs disease fibroblasts.
    Hechtman P, Khoo K, Isaacs C.
    Clin Genet; 1983 Sep 11; 24(3):206-15. PubMed ID: 6226462
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. Cultured skin fibroblasts in lipidoses. Enzymatic, histochemical, and ultrastructural relationship in Fabry's Tay-Sachs, and Sandhoff's diseases.
    Yuasa T, Fukuma M, Takashima S, Takaki R.
    Arch Pathol Lab Med; 1980 Jun 11; 104(6):321-7. PubMed ID: 6246846
    [Abstract] [Full Text] [Related]

  • 6. Pharmacological enhancement of beta-hexosaminidase activity in fibroblasts from adult Tay-Sachs and Sandhoff Patients.
    Tropak MB, Reid SP, Guiral M, Withers SG, Mahuran D.
    J Biol Chem; 2004 Apr 02; 279(14):13478-87. PubMed ID: 14724290
    [Abstract] [Full Text] [Related]

  • 7. Serum beta-hexosaminidases in pregnancy.
    Lowden JA.
    Clin Chim Acta; 1979 May 02; 93(3):409-17. PubMed ID: 445857
    [Abstract] [Full Text] [Related]

  • 8. In situ assessment of beta-hexosaminidase activity.
    Lacorazza HD, Jendoubi M.
    Biotechniques; 1995 Sep 02; 19(3):434-40. PubMed ID: 7495557
    [Abstract] [Full Text] [Related]

  • 9. 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 02; 3(9):769-74. PubMed ID: 8875224
    [Abstract] [Full Text] [Related]

  • 10. Enzyme immunoassay of beta-hexosaminidase A and B in serum: carrier detection of GM2-gangliosidoses, and equivalence of enzyme activity and enzyme protein reactivity.
    Isaksson A, Hultberg B, Masson P, Landels E, Fensom A.
    Clin Chem; 1993 Jul 02; 39(7):1412-5. PubMed ID: 8330398
    [Abstract] [Full Text] [Related]

  • 11. [Reconstruction of hexosaminidase isoenzymes during hybridization of fibroblasts from Tay-Sachs and Sandhoff diseases].
    Beĭer EM, Vidershaĭn GIa, Venert M.
    Biull Eksp Biol Med; 1984 Jan 02; 97(1):83-6. PubMed ID: 6229294
    [Abstract] [Full Text] [Related]

  • 12. The mutation mechanism causing juvenile-onset Tay-Sachs disease among Lebanese.
    Hechtman P, Boulay B, Bayleran J, Andermann E.
    Clin Genet; 1989 May 02; 35(5):364-75. PubMed ID: 2527097
    [Abstract] [Full Text] [Related]

  • 13. 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 02; 41(4):532-48. PubMed ID: 2959149
    [Abstract] [Full Text] [Related]

  • 14. Molecular forms of beta-N-acetylhexosaminidase in Epstein-Barr virus-transformed lymphoid cell lines from normal subjects and patients with Tay-Sachs disease.
    Salvayre R, Maret A, Negre A, Lenoir G, Vuillaume M, Icart J, Didier J, Douste-Blazy L.
    Eur J Biochem; 1983 Jul 01; 133(3):627-33. PubMed ID: 6305653
    [Abstract] [Full Text] [Related]

  • 15. High-throughput screening for human lysosomal beta-N-Acetyl hexosaminidase inhibitors acting as pharmacological chaperones.
    Tropak MB, Blanchard JE, Withers SG, Brown ED, Mahuran D.
    Chem Biol; 2007 Feb 01; 14(2):153-64. PubMed ID: 17317569
    [Abstract] [Full Text] [Related]

  • 16. Epstein-Barr virus transformed lymphoid cell lines as a new model system in culture for the study of GM2-gangliosidoses: Tay-Sachs and Sandhoff diseases.
    Maret A, Salvayre R, Negre A, Bes JC, Douste-Blazy L.
    Biol Cell; 1985 Feb 01; 53(3):293-6. PubMed ID: 2990625
    [Abstract] [Full Text] [Related]

  • 17. Tay-Sachs and Sandhoff diseases: enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards.
    Chamoles NA, Blanco M, Gaggioli D, Casentini C.
    Clin Chim Acta; 2002 Apr 01; 318(1-2):133-7. PubMed ID: 11880123
    [Abstract] [Full Text] [Related]

  • 18. Characterization of the testis and epididymis in mouse models of human Tay Sachs and Sandhoff diseases and partial determination of accumulated gangliosides.
    Trasler J, Saberi F, Somani IH, Adamali HI, Huang JQ, Fortunato SR, Ritter G, Gu M, Aebersold R, Gravel RA, Hermo L.
    Endocrinology; 1998 Jul 01; 139(7):3280-8. PubMed ID: 9645704
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. Hereditary heat-labile hexosaminidase B: its implication for recognizing Tay-Sachs genotypes.
    Navon R, Nutman J, Kopel R, Gaber L, Gadoth N, Goldman B, Nitzan M.
    Am J Hum Genet; 1981 Nov 15; 33(6):907-15. PubMed ID: 6459736
    [Abstract] [Full Text] [Related]

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