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Treatment of hereditary tyrosinaemia (fumarylacetoacetase deficiency) by enzyme substitution

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References

  1. Fällström, S. P., Lindblad, B., Lindstedt, S. and Steen, G. Hereditary tyrosinaemia — fumarylacetoacetase deficiency.Pediatr. Res. 13 (1979) 78

  2. Holme, E., Lindblad, B. and Lindstedt, S. Possibilities for treatment and for early prenatal diagnosis of hereditary tyrosinaemia.Lancet 1 (1985) 527

  3. Kvittingen, E. A., Halvorsen, S. and Jellum, E. Deficient fumarylacetoacetate fumarylhydrolase activity in lymphocytes and fibroblasts from patients with hereditary tyrosinaemia.Pediatr. Res. 14 (1983) 541–544

  4. Lindblad, B., Lindstedt, S. and Steen, G. On the enzymic defects in hereditary tyrosinaemia.Proc. Natl. Acad. Sci. (USA) 74 (1977) 4641–4645

  5. Weinberg, A. G., Mize, C. E. and Worthen, H. G. The occurrence of hepatoma in the chronic form of hereditary tyrosinaemia.J. Pediatr. 88 (1976) 434–438

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Lindblad, B., Fridén, J., Greter, J. et al. Treatment of hereditary tyrosinaemia (fumarylacetoacetase deficiency) by enzyme substitution. J Inherit Metab Dis 9, 257–261 (1986). https://doi.org/10.1007/BF01799722

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Keywords

  • Exchange Transfusion
  • Renal Tubular Damage
  • Estimate Blood Volume
  • Progress Liver Disease
  • Blood Exchange Transfusion