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Effect of nitisinon...
Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec.
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Larochelle, Jean (author)
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Alvarez, Fernando (author)
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Bussières, Jean-François (author)
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Chevalier, Isabelle (author)
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Dallaire, Louis (author)
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Dubois, Josée (author)
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Faucher, Frédéric (author)
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Fenyves, Daphna (author)
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Goodyer, Paul (author)
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Grenier, André (author)
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- Holme, Elisabeth, 1947 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för klinisk kemi och transfusionsmedicin,Institute of Biomedicine, Department of Clinical Chemistry and Transfusion Medicine
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Laframboise, Rachel (author)
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Lambert, Marie (author)
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- Lindstedt, Sven (author)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för klinisk kemi och transfusionsmedicin,Institute of Biomedicine, Department of Clinical Chemistry and Transfusion Medicine
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Maranda, Bruno (author)
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Melançon, Serge (author)
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Merouani, Aicha (author)
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Mitchell, John (author)
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Parizeault, Guy (author)
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Pelletier, Luc (author)
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Phan, Véronique (author)
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Rinaldo, Piero (author)
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Scott, C Ronald (author)
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Scriver, Charles (author)
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Mitchell, Grant A (author)
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(creator_code:org_t)
- Elsevier BV, 2012
- 2012
- English.
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In: Molecular genetics and metabolism. - : Elsevier BV. - 1096-7206 .- 1096-7192. ; 107:1-2, s. 49-54
- Related links:
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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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)
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Larochelle, Jean
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Alvarez, Fernand ...
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Bussières, Jean- ...
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Chevalier, Isabe ...
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Dallaire, Louis
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Dubois, Josée
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show more...
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Faucher, Frédéri ...
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Fenyves, Daphna
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Goodyer, Paul
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Grenier, André
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Holme, Elisabeth ...
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Laframboise, Rac ...
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Lambert, Marie
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Lindstedt, Sven
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Maranda, Bruno
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Melançon, Serge
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Merouani, Aicha
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Mitchell, John
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Parizeault, Guy
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Pelletier, Luc
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Phan, Véronique
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Rinaldo, Piero
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Scott, C Ronald
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Scriver, Charles
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Mitchell, Grant ...
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
- Articles in the publication
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Molecular geneti ...
- By the university
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University of Gothenburg