Mutation Spectrum of Fumarylacetoacetase Gene and Clinical Aspects of Tyrosinemia Type I Disease

Antzeko izenburuak

• Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1.
  nork: Rootwelt, H., et al.
  Argitaratua: (1994)
• Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I.
  nork: Rootwelt, H., et al.
  Argitaratua: (1994)
• Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect.
  nork: Kvittingen, E A, et al.
  Argitaratua: (1993)
• Identification of Mutations and Evaluation of Cardiomyopathy in Turkish Patients with Primary Carnitine Deficiency
  nork: Kilic, M., et al.
  Argitaratua: (2011)
• Fumarylacetoacetase measurement as a mass-screening procedure for hereditary tyrosinemia type I.
  nork: Laberge, C, et al.
  Argitaratua: (1990)