Discovery of Hereditary Tyrosinemia in Saguenay- Lac St-Jean

Adv Exp Med Biol. 2017:959:3-8. doi: 10.1007/978-3-319-55780-9_1.

Abstract

Given the interest of many people and families directly or indirectly affected by hereditary tyrosinemia (HT1), I have tried to give my view on the history of the disease from 1965 to 2015 (Fig. 1.1).

Keywords: Alpha foetoprotein; Charlevoix; Diagnosis; HT1; Liver cirrhosis; Tyrosyluria.

MeSH terms

  • Animals
  • Canada / epidemiology
  • Heredity / genetics*
  • Humans
  • Tyrosinemias / epidemiology*
  • Tyrosinemias / genetics*