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318 related items for PubMed ID: 13950

  • 1. Ganglioside GM2 N-acetyl-beta-D-galactosaminidase and asialo GM2 (GA2) N-acetyl-beta-D-galactosaminidase; studies in human skin fibroblasts.
    O'Brien JS, Norden GW, Miller AL, Frost RG, Kelly TE.
    Clin Genet; 1977 Mar; 11(3):171-83. PubMed ID: 13950
    [Abstract] [Full Text] [Related]

  • 2. Ganglioside GM2 N-acetyl-beta-D-galactosaminidase activity in cultured fibroblasts of late-infantile and adult GM2 gangliosidosis patients and of healthy probands with low hexosaminidase level.
    Conzelmann E, Kytzia HJ, Navon R, Sandhoff K.
    Am J Hum Genet; 1983 Sep; 35(5):900-13. PubMed ID: 6614006
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  • 3. Assay of ganglioside GM2-N-acetyl-beta-D-galactosaminidase activity in human fibroblasts employing the natural activator protein--diagnosis of variant forms of GM2 gangliosidosis.
    Erzberger A, Conzelmann E, Sandhoff K.
    Clin Chim Acta; 1980 Dec 22; 108(3):361-8. PubMed ID: 6781795
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  • 4. AB variant of infantile GM2 gangliosidosis: deficiency of a factor necessary for stimulation of hexosaminidase A-catalyzed degradation of ganglioside GM2 and glycolipid GA2.
    Conzelmann E, Sandhoff K.
    Proc Natl Acad Sci U S A; 1978 Aug 22; 75(8):3979-83. PubMed ID: 99746
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  • 5. Diagnosis of Tay-Sachs disease using [3H]N-acetylneuraminic acid labelled GM2 ganglioside as substrate.
    Poulos A, Holding J, Carey WF.
    Clin Chim Acta; 1982 Apr 23; 120(3):331-40. PubMed ID: 6210469
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  • 6. Characterization of unusual hexosaminidase A (HEX A) deficient human mutants.
    O'Brien JS, Tennant L, Veath ML, Scott CR, Bucknall WE.
    Am J Hum Genet; 1978 Nov 23; 30(6):602-8. PubMed ID: 747188
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  • 7. Assay of the GM2-ganglioside cleaving hexosaminidase activity of skin fibroblasts for GM2-gangliosidoses.
    Harzer K.
    Clin Chim Acta; 1983 Nov 30; 135(1):89-93. PubMed ID: 6228344
    [No Abstract] [Full Text] [Related]

  • 8. Ganglioside loading of cultured fibroblasts: a provocative method for the diagnosis of the GM2 gangliosidoses.
    Charrow J, Binns HJ.
    Clin Chim Acta; 1986 Apr 15; 156(1):41-9. PubMed ID: 2938852
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  • 9. Prenatal diagnosis of GM2 gangliosidosis with high residual hexosaminidase A activity (variant B1; pseudo AB variant).
    Conzelmann E, Nehrkorn H, Kytzia HJ, Sandhoff K, Macek M, Lehovský M, Elleder M, Jirásek A, Kobilková J.
    Pediatr Res; 1985 Nov 15; 19(11):1220-4. PubMed ID: 2933632
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  • 11. Deficiency of the hexosaminidase A activator protein in a case of GM2 gangliosidosis; variant AB.
    Hechtman P, Gordon BA, Ng Ying Kin NM.
    Pediatr Res; 1982 Mar 15; 16(3):217-22. PubMed ID: 6801612
    [Abstract] [Full Text] [Related]

  • 12. The specificity of human N-acetyl-beta-D-hexosaminidases towards glycosphincolipids is determined by an activator protein.
    Conzelmann E, Sandhoff K.
    Adv Exp Med Biol; 1980 Mar 15; 125():295-306. PubMed ID: 6444774
    [Abstract] [Full Text] [Related]

  • 13. GM2-ganglioside metabolism in hexosaminidase A deficiency states: determination in situ using labeled GM2 added to fibroblast cultures.
    Raghavan SS, Krusell A, Krusell J, Lyerla TA, Kolodny EH.
    Am J Hum Genet; 1985 Nov 15; 37(6):1071-82. PubMed ID: 2934978
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  • 15. Incorporation and metabolism of ganglioside GM2 in skin fibroblasts from normal and GM2 gangliosidosis subjects.
    Sonderfeld S, Conzelmann E, Schwarzmann G, Burg J, Hinrichs U, Sandhoff K.
    Eur J Biochem; 1985 Jun 03; 149(2):247-55. PubMed ID: 3922757
    [Abstract] [Full Text] [Related]

  • 16. Characterization of an activating factor required for hydrolysis of Gm2 ganglioside catalyzed by hexosaminidase A.
    Hechtman P.
    Can J Biochem; 1977 Apr 03; 55(4):315-24. PubMed ID: 858083
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  • 19. Evidence for two different active sites on human beta-hexosaminidase A. Interaction of GM2 activator protein with beta-hexosaminidase A.
    Kytzia HJ, Sandhoff K.
    J Biol Chem; 1985 Jun 25; 260(12):7568-72. PubMed ID: 3158659
    [Abstract] [Full Text] [Related]

  • 20. Plasma GM2 ganglioside potential biomarker for diagnosis, prognosis and disease monitoring of GM2-Gangliosidosis.
    Blondel A, Kraoua I, Marcelino C, Khrouf W, Schlemmer D, Ganne B, Caillaud C, Fernández-Eulate G, Turki IBY, Dauriat B, Bonnefont-Rousselot D, Nadjar Y, Lamari F.
    Mol Genet Metab; 2023 Feb 25; 138(2):106983. PubMed ID: 36709536
    [Abstract] [Full Text] [Related]

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