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Journal Abstract Search

280 related items for PubMed ID: 6239713

  • 1. 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
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  • 2. 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 15; 41(4):532-48. PubMed ID: 2959149
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  • 3. Detection of Tay-Sachs disease carriers among individuals with thermolabile hexosaminidase B.
    Peleg L, Goldman B.
    Eur J Clin Chem Clin Biochem; 1994 Feb 15; 32(2):65-9. PubMed ID: 8003579
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  • 8. Identification of GM2-gangliosidosis B1 variant carriers.
    Ribeiro MG, Pinto R, Oliveira P, Sá Miranda MC.
    J Inherit Metab Dis; 1993 Feb 15; 16(6):1003-11. PubMed ID: 8127050
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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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  • 10. Hereditary heat-labile hexosaminidase B: a variant whose homozygotes synthesize a functional HEX A.
    Navon R, Kopel R, Nutman J, Frisch A, Conzelmann E, Sandhoff K, Adam A.
    Am J Hum Genet; 1985 Jan 15; 37(1):138-46. PubMed ID: 3156493
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  • 11. 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
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  • 12. Variant of GM2-gangliosidosis with hexosaminidase A having a severely changed substrate specificity.
    Kytzia HJ, Hinrichs U, Maire I, Suzuki K, Sandhoff K.
    EMBO J; 1983 Jul 01; 2(7):1201-5. PubMed ID: 6226523
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  • 13. Juvenile GM2 gangliosidosis (AMB variant): inability to activate hexosaminidase A by activator protein.
    Inui K, Grebner EE, Jackson LG, Wenger DA.
    Am J Hum Genet; 1983 Jul 01; 35(4):551-64. PubMed ID: 6224417
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  • 14. 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 01; 33(6):907-15. PubMed ID: 6459736
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  • 15. 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 Nov 01; 125():295-306. PubMed ID: 6444774
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  • 16. 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
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  • 17. 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
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  • 18. Diagnosis and carrier detection of Tay-Sachs disease: direct determination of hexosaminidase A using 4-methylumbelliferyl derivatives of beta-N-acetylglucosamine-6-sulfate and beta-N-acetylgalactosamine-6-sulfate.
    Ben-Yoseph Y, Reid JE, Shapiro B, Nadler HL.
    Am J Hum Genet; 1985 Jul 16; 37(4):733-40. PubMed ID: 9556661
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  • 19. Thermodynamic characterisation of the mutated isoenzyme A of beta-N-acetylhexosaminidase in GM2-gangliosidosis B1 variant.
    Pérez LF, Ribeiro HM, Casal JA, Pinto RA, Sá Miranda MC, Tutor JC.
    Clin Chim Acta; 1999 Jul 16; 285(1-2):45-51. PubMed ID: 10481922
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  • 20. Tay-Sachs disease heterozygote detection: use of a centrifugal analyser for automation of hexosaminidase assays with two different artificial substrates.
    Landels EC, Ellis IH, Bobrow M, Fensom AH.
    J Med Genet; 1991 Feb 16; 28(2):101-9. PubMed ID: 1825851
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