Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8344020 | Molecular Genetics and Metabolism | 2012 | 6 Pages |
Abstract
⺠A 25-year record of hepatorenal tyrosinemia (HT1) in Québec is presented. ⺠71% of non-nitisinone treated HT1 patients required liver transplantation (median age, 26 m). ⺠Nitisinone treatment abolished the acute complications of HT1 and reduced HT1-related deaths. ⺠Some late-treated patients, who had liver findings before treatment, required transplantation. ⺠Screened newborns with early nitisinone treatment had no detectable liver disease after â¥Â 5 y.
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Authors
Jean Larochelle, Fernando Alvarez, Jean-François Bussières, Isabelle Chevalier, Louis Dallaire, Josée Dubois, Frédéric Faucher, Daphna Fenyves, Paul Goodyer, André Grenier, Elisabeth Holme, Rachel Laframboise, Marie Lambert, Sven Lindstedt,