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A case of the B1 variant of GM2-gangliosidosis

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Journal of Inherited Metabolic Disease

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References

  • Besley, G. T. N., Broadhead, D. M. and Young, J. A. GM2-gangliosidosis variant with altered substrate specificity: evidence forα-locus genetic compound.J. Inher. Metab. Dis. 10 (1987) 403–404

    Google Scholar 

  • Besley, G. T. N., Broadhead, D. M. and Young, J. A. Diagnosis of hexosaminidase A deficiency with a sulphated substrate: evidence for anα-locus genetic compound in a Tay-Sachs variant. In Salvayre, R., Douste-Blazy, L. and Gatt, S. (eds.),Lipid Storage Disorders, Plenum Press, New York and London, 1988, pp. 247–252

    Google Scholar 

  • Goebel, H. H., Stolte, G., Kustermann-Kuhn, B. and Harzer, K. B1 variant of GM2-gangliosidosis in a 12-year-old patient.Pediatr. Res. 25 (1989) 89–93

    Google Scholar 

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

    Google Scholar 

  • Neufeld, E. F. Natural history and inherited disorders of a lysosomal enzyme,β-hexosaminidase.J. Biol. Chem. 264 (1989) 10927–10930

    Google Scholar 

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Authors and Affiliations

  1. Department of Clinical Chemistry, The Children's Hospital, B16 8ET, Birmingham

    R. G. F. Gray & A. Green

  2. East Birmingham Hospital, Birmingham, UK

    L. Rabb

  3. Department of Paediatric Biochemistry, Royal Hospital for Sick Children, Edinburgh, UK

    D. M. Broadhead & G. T. N. Besley

Authors
  1. R. G. F. Gray
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  2. A. Green
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  3. L. Rabb
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  4. D. M. Broadhead
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  5. G. T. N. Besley
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Gray, R.G.F., Green, A., Rabb, L. et al. A case of the B1 variant of GM2-gangliosidosis. J Inherit Metab Dis 13, 280–282 (1990). https://doi.org/10.1007/BF01799373

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  • DOI: https://doi.org/10.1007/BF01799373

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