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A new variant form of hypertyrosinaemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency

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Two types of hereditary hypertyrosinaemia have been described (La Du and Gjessing, 1978). In this paper we describe familial cases of hypertyrosinaemia, in one of whom detailed enzymatic studies were done on the liver obtained at autopsy. The results suggest the disease as being a new variant of tyrosinaemia.

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Endo, F., Kitano, A., Uehara, I. et al. A new variant form of hypertyrosinaemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency. J Inherit Metab Dis 5, 237–238 (1982).

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  • Public Health
  • Internal Medicine
  • Metabolic Disease
  • Variant Form
  • Familial Case