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Journal Abstract Search

169 related items for PubMed ID: 817596

  • 1. Studies on complementation of beta hexosaminidase deficiency in human GM2 gangliosidosis.
    Rattazzi MC, Brown JA, Davidson RG, Shows TB.
    Am J Hum Genet; 1976 Mar; 28(2):143-54. PubMed ID: 817596
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  • 2. Tay-Sachs and Sandhoff-Jatzkewitz diseases: complementation of hexosaminidase A deficiency by somatic cell hybridization.
    Rattazzi MC, Brown JA, Davidson RG, Shows TB.
    Birth Defects Orig Artic Ser; 1975 Mar; 11(3):232-5. PubMed ID: 812568
    [No Abstract] [Full Text] [Related]

  • 3. Hexosaminidase isozyme in type O Gm2 gangliosidosis (Sandhoff-Jatzkewitz disease).
    Beutler E, Kuhl W, Comings D.
    Am J Hum Genet; 1975 Sep; 27(5):628-38. PubMed ID: 808963
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  • 5. Characterization of Hex S, the major residual beta hexosaminidase activity in type O Gm2 gangliosidosis (Sandhoff-Jatzkewitz disease).
    Ikonne JU, Rattazzi MC, Desnick RJ.
    Am J Hum Genet; 1975 Sep; 27(5):639-50. PubMed ID: 240271
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  • 8. 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
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  • 9. Tay-Sachs and Sandhoff-Jatzkewitz diseases: complementation of hexosaminidase A deficiency by somatic cell hybridization.
    Rattazzi MC, Brown JA, Davidson RG, Shows TB.
    Cytogenet Cell Genet; 1975 Mar; 14(3-6):402-5. PubMed ID: 1192826
    [No Abstract] [Full Text] [Related]

  • 10. Alpha-locus hexosaminidase genetic compound with juvenile gangliosidosis phenotype: clinical, genetic, and biochemical studies.
    Johnson WG, Cohen CS, Miranda AF, Waran SP, Chutorian AM.
    Am J Hum Genet; 1980 Jul; 32(4):508-18. PubMed ID: 6772023
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  • 11. A study of hexosaminadases in interspecific hybrids and in GM2 gangliosidosis with a discussion on their genetic control.
    Van Cong N, Weil D, Rebourcet R, Frézal J, Richard-Mollard AM.
    Ann Hum Genet; 1975 Jul; 39(1):111-23. PubMed ID: 810068
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  • 14. 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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  • 17. 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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  • 19. Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase.
    Paw BH, Kaback MM, Neufeld EF.
    Proc Natl Acad Sci U S A; 1989 Apr 15; 86(7):2413-7. PubMed ID: 2522660
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  • 20. Nonuniform deficiency of hexosaminidase A in tissues and fluids of two unrelated individuals.
    Thomas GH, Raghavan S, Kolodny EH, Frisch A, Neufeld EF, O'Brien JS, Reynolds LW, Miller CS, Shapiro J, Kazazian HH, Heller RH.
    Pediatr Res; 1982 Mar 15; 16(3):232-7. PubMed ID: 7063277
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