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  • Larochelle, Jean (author)

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

  • Article/chapterEnglish2012

Publisher, publication year, extent ...

  • Elsevier BV,2012

Numbers

  • LIBRIS-ID:oai:gup.ub.gu.se/168073
  • https://gup.ub.gu.se/publication/168073URI
  • https://doi.org/10.1016/j.ymgme.2012.05.022DOI

Supplementary language notes

  • Language:English

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  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • 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 and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Alvarez, Fernando (author)
  • Bussières, Jean-François (author)
  • Chevalier, Isabelle (author)
  • Dallaire, Louis (author)
  • Dubois, Josée (author)
  • Faucher, Frédéric (author)
  • Fenyves, Daphna (author)
  • Goodyer, Paul (author)
  • Grenier, André (author)
  • Holme, Elisabeth,1947Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för klinisk kemi och transfusionsmedicin,Institute of Biomedicine, Department of Clinical Chemistry and Transfusion Medicine(Swepub:gu)xholme (author)
  • Laframboise, Rachel (author)
  • Lambert, Marie (author)
  • Lindstedt, SvenGothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för klinisk kemi och transfusionsmedicin,Institute of Biomedicine, Department of Clinical Chemistry and Transfusion Medicine(Swepub:gu)xlsvez (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)
  • Göteborgs universitetInstitutionen för biomedicin, avdelningen för klinisk kemi och transfusionsmedicin (creator_code:org_t)

Related titles

  • In:Molecular genetics and metabolism: Elsevier BV107:1-2, s. 49-541096-72061096-7192

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