A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report

Benzer Materyaller

• Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1.
  Yazar:: Rootwelt, H., ve diğerleri
  Baskı/Yayın Bilgisi: (1994)
• Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I.
  Yazar:: Rootwelt, H., ve diğerleri
  Baskı/Yayın Bilgisi: (1994)
• Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect.
  Yazar:: Kvittingen, E A, ve diğerleri
  Baskı/Yayın Bilgisi: (1993)
• Mutation Spectrum of Fumarylacetoacetase Gene and Clinical Aspects of Tyrosinemia Type I Disease
  Yazar:: Dursun, A., ve diğerleri
  Baskı/Yayın Bilgisi: (2011)
• Fumarylacetoacetase measurement as a mass-screening procedure for hereditary tyrosinemia type I.
  Yazar:: Laberge, C, ve diğerleri
  Baskı/Yayın Bilgisi: (1990)