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Journal Abstract Search

167 related items for PubMed ID: 463876

  • 1. Evidence for a hybrid hexosaminidase isoenzyme in heterozygotes for Sandhoff disease.
    Lowden JA.
    Am J Hum Genet; 1979 May; 31(3):281-9. PubMed ID: 463876
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  • 2. Serum beta-hexosaminidases in pregnancy.
    Lowden JA.
    Clin Chim Acta; 1979 May 02; 93(3):409-17. PubMed ID: 445857
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  • 6. The lysosomal hexosaminidase isozymes.
    Mahuran D, Novak A, Lowden JA.
    Isozymes Curr Top Biol Med Res; 1985 May 02; 12():229-88. PubMed ID: 3886595
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  • 10. Molecular heterogeneity in the infantile and juvenile forms of Sandhoff disease (O-variant GM2 gangliosidosis).
    O'Dowd BF, Klavins MH, Willard HF, Gravel R, Lowden JA, Mahuran DJ.
    J Biol Chem; 1986 Sep 25; 261(27):12680-5. PubMed ID: 3017984
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  • 11. Juvenile Sandhoff Disease: complementation tests with Sandhoff and Tay-Sachs disease using polyethylene glycol-induced cell fusion.
    Wood S.
    Hum Genet; 1978 Apr 24; 41(3):325-9. PubMed ID: 417993
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  • 12. The expression of hex A and hex B isozymes of hexosaminidase in parental and experimental human fibroblast cells and their components.
    Bladon MT.
    Biochem Genet; 1981 Oct 24; 19(9-10):971-86. PubMed ID: 7332532
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  • 13. A structural difference between the beta-chains in hexosaminidase B and hexosaminidase A.
    Mahuran D, Lowden JA.
    Can J Biochem; 1981 Apr 24; 59(4):237-41. PubMed ID: 6454477
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  • 14. [Genetic study of GM2 gangliosidosis (Tay-Sachs and Sandhoff) by the study of the hexosaminidases of the Sandhoff-rodents hybrids (mouse and hamster)].
    Weil D, Van Cong N, Rebourcet R, Frézal J.
    Ann Genet; 1975 Sep 24; 18(3):163-8. PubMed ID: 810067
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  • 15. Sandhoff disease in the Turkish population.
    Ozkara HA, Topçu M, Renda Y.
    Brain Dev; 1997 Nov 24; 19(7):469-72. PubMed ID: 9408593
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  • 16. Hexosaminidase isozyme in type O Gm2 gangliosidosis (Sandhoff-Jatzkewitz disease).
    Beutler E, Kuhl W, Comings D.
    Am J Hum Genet; 1975 Sep 24; 27(5):628-38. PubMed ID: 808963
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  • 17. Human hexosaminidase isozymes: chromatographic separation as an aid to heterozygote identification.
    Nakagawa S, Kumin S, Nitowsky HM.
    Clin Chim Acta; 1977 Mar 01; 75(2):181-91. PubMed ID: 851488
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  • 18. Compound heterozygosity with two novel mutations in the HEXB gene produces adult Sandhoff disease presenting as a motor neuron disease phenotype.
    Yoshizawa T, Kohno Y, Nissato S, Shoji S.
    J Neurol Sci; 2002 Mar 30; 195(2):129-38. PubMed ID: 11897243
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  • 19. Chromatofocusing coupled with automated assay for beta-hexosaminidase isoenzymes in GM2 gangliosidosis.
    Orlacchio A, Maffei C, Emiliani C, Coppa GV, Felici L.
    Experientia; 1985 Apr 15; 41(4):525-7. PubMed ID: 3157597
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  • 20. Sandhoff disease heterozygote detection: a component of population screening for Tay-Sachs disease carriers. I. Statistical methods.
    Cantor RM, Lim JS, Roy C, Kaback MM.
    Am J Hum Genet; 1985 Sep 15; 37(5):912-21. PubMed ID: 4050790
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