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Hexosaminidase a activity in skin fibroblasts from various types of GM2 gangliosidosis using a fluorogenic sulphated substrate

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Journal of Inherited Metabolic Disease

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References

  • Charrow, J., Inui, K. and Wenger, D. A. Late onset GM2 gangliosidosis: An α-locus genetic compound with near normal hexosaminidase activity.Clin. Genet. 27 (1985) 78–84

    PubMed  Google Scholar 

  • Conzelmann, E., Kytzia, H.-J., Navon, R. and Sandhoff, K. Ganglioside GM2 N-acetyl-β-d-galactosaminidase activity in cultured fibroblasts of late-infantile and adult GM2 gangliosidosis patients and of healthy probands with low hexosaminidase level.Am. J. Hum. Genet. 35 (1983) 900–913

    PubMed  Google Scholar 

  • Fuchs, W., Navon, R., Kaback, M. M. and Kresse, H. Tay-Sachs disease: One-step assay of β-N-acetyl-hexosaminidase in serum with a sulphated chromogenic substrate.Clin. Chim. Acta 133 (1983) 253–261

    PubMed  Google Scholar 

  • Inui, K., Grebner, E. E., Jackson, L. G. and Wenger, D. A. Juvenile GM2 gangliosidosis (AMB variant): Inability to activate hexosaminidase A by activator protein.Am. J. Hum. Genet. 35 (1983) 551–564

    PubMed  Google Scholar 

  • Inui, K. and Wenger, D. A. Usefulness of 4-methylumbelliferyl-6-sulfo-2-acetamide-2-deoxy-β-d-glucopyranoside for the diagnosis of GM2 gangliosidosis in leukocytes.Clin. Genet. 26 (1984) 318–321

    PubMed  Google Scholar 

  • Kresse, H., Fuchs, W., Glössl, J. Holtfrerich, D. and Gilberg, W. Liberation ofN-acetylglucosamine-6-sulfate by human β-N-acetylhexosaminidase A.J. Biol. Chem. 256 (1981) 12926–12932

    PubMed  Google Scholar 

  • Kytzia, H.-J., Hinrichs, U., Marie, I., Suzuki, K. and Sandhoff, K. Variant of GM2-gangliosidosis with hexosaminidase A having a severely changed substrate specificity.EMBO J. 2 (1983) 1201–1205

    PubMed  Google Scholar 

  • Li, S.-C., Hirabayashi, Y. and Li, Y.-T. A new variant of type-AB GM2-gangliosidosis.Biochem. Biophys. Res. Commun. 101 (1981) 479–485

    PubMed  Google Scholar 

  • Willner, J. P., Grabowski, G. A., Gordon, R. E., Bender, A. N. and Desnick, R. J. Chronic GM2 gangliosidosis masquerading as atypical Friedreich ataxia: Clinical, morphologic and biochemical studies of nine cases.Neurology 31 (1981) 787–798

    PubMed  Google Scholar 

  • Yutaka, T., Kato, T., Midorikawa, M., Doke, M., Okada, S. and Yabuuchi, H. Diagnosis of Tay-Sachs disease by estimation of β-N-acetylhexosaminidase activity using a radiolabeled hyaluronic acid-derived trisaccharide substrate.Clin. Chim. Acta 137 (1984) 159–168

    PubMed  Google Scholar 

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Authors and Affiliations

  1. Department of Pediatrics, Osaka University Medical School, Fukushima-ku, 553, Osaka, Japan

    K. Inui, T. Yutaka, S. Okada & H. Yabuuchi

  2. Department of Pediatrics, University of Colorado School of Medicine, 80262, Denver, CO, USA

    D. A. Wenger

  3. Department of Pediatrics, Mount Sinai School of Medicine, 10029, New York, NY, USA

    R. J. Desnick

Authors
  1. K. Inui
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  2. T. Yutaka
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  3. S. Okada
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  4. H. Yabuuchi
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  5. D. A. Wenger
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  6. R. J. Desnick
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Inui, K., Yutaka, T., Okada, S. et al. Hexosaminidase a activity in skin fibroblasts from various types of GM2 gangliosidosis using a fluorogenic sulphated substrate. J Inherit Metab Dis 8, 149–150 (1985). https://doi.org/10.1007/BF01819302

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  • DOI: https://doi.org/10.1007/BF01819302

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