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Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec.
- Larochelle, Jean (author)
- Alvarez, Fernando (author)
- Bussières, Jean-François (author)
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- Chevalier, Isabelle (author)
- Dallaire, Louis (author)
- Dubois, Josée (author)
- Faucher, Frédéric (author)
- Fenyves, Daphna (author)
- Goodyer, Paul (author)
- Grenier, André (author)
- Laframboise, Rachel (author)
- Lambert, Marie (author)
- Maranda, Bruno (author)
- Melançon, Serge (author)
- Merouani, Aicha (author)
- Mitchell, John (author)
- Parizeault, Guy (author)
- Pelletier, Luc (author)
- Phan, Véronique (author)
- Rinaldo, Piero (author)
- Scott, C Ronald (author)
- Scriver, Charles (author)
- Mitchell, Grant A (author)
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- (creator_code:org_t)
- Elsevier BV, 2012
- 2012
- English.
- In: Molecular genetics and metabolism. - : Elsevier BV. - 1096-7206 .- 1096-7192. ; 107:1-2, s. 49-54
- Journal article (peer-reviewed)
Abstract
Subject headings
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine (hsv//eng)
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- ref (subject category)
- art (subject category)
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- Dallaire, Louis
- Dubois, Josée
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- Faucher, Frédéri ...
- Fenyves, Daphna
- Goodyer, Paul
- Grenier, André
- Holme, Elisabeth ...
- Laframboise, Rac ...
- Lambert, Marie
- Lindstedt, Sven
- Maranda, Bruno
- Melançon, Serge
- Merouani, Aicha
- Mitchell, John
- Parizeault, Guy
- Pelletier, Luc
- Phan, Véronique
- Rinaldo, Piero
- Scott, C Ronald
- Scriver, Charles
- Mitchell, Grant ...
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- University of Gothenburg
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