Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec.

@article{Larochelle2012EffectON,
  title={Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Qu{\'e}bec.},
  author={Jean Larochelle and Fernando Villegas Alvarez and J. F. Bussi{\`e}res and Isabelle Chevalier and Louis Dallaire and Jos{\'e}e Dubois and Fr{\'e}d{\'e}ric Faucher and Daphna Fenyves and Paul G Goodyer and Andr{\'e} Grenier and Elisabeth Holme and R Laframboise and Marie Lambert and Sven Lindstedt and Bruno Maranda and Serge B. Melançon and Aicha M{\'e}rouani and John H Mitchell and Guy Parizeault and Luc Pelletier and V{\'e}ronique Phan and Piero Rinaldo and C. Ronald Scott and Charles R. Scriver and Grant A. Mitchell},
  journal={Molecular genetics and metabolism},
  year={2012},
  volume={107 1-2},
  pages={
          49-54
        }
}
BACKGROUND Hepatorenal tyrosinemia (HT1, fumarylacetoacetate hydrolase deficiency, MIM 276700) can cause severe hepatic, renal and peripheral nerve damage. In Québec, HT1 is frequent and neonatal HT1 screening is practiced. Nitisinone (NTBC, Orfadin ®) inhibits tyrosine degradation prior to the formation of toxic metabolites like succinylacetone and has been offered to HT1 patients in Québec since 1994. METHODS We recorded the clinical course of 78 Québec HT1 patients born between 1984 and… CONTINUE READING
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