Deficiency of fumarylacetoacetase without hereditary tyrosinemia
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1985.tb02039.x/fullpdf
Reference9 articles.
1. Deficiency of fumarylacetoacetase in a patient with hereditary tyrosinemia.;Berger;Clin. Chim. Acta.,1981
2. Hereditary tyrosinemia-fumarylacetoacetase deficiency.;Fällstrøm;Pediatr. Res.,1979
3. Acute hereditary tyrosinaemia type I. Clinical, biochemical and haematological studies in twins.;Gray;J. Inher. Metab. Dis.,1981
4. Screening for Disorders of Tyrosine Metabolism
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1. Hepatorenal Tyrosinemia;Genetic Diseases of the Kidney;2009
2. Structural and Functional Analysis of Missense Mutations in Fumarylacetoacetate Hydrolase, the Gene Deficient in Hereditary Tyrosinemia Type 1;Journal of Biological Chemistry;2001-01
3. Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: Overview;Human Mutation;1997
4. Tyrosinaemia type 1 and glutathione synthetase deficiency: two disorders with reduced hepatic thiol group concentrations and a liver 4-fumarylacetoacetate hydrolase deficiency;Journal of Inherited Metabolic Disease;1995
5. Tyrosinemia;Inborn Metabolic Diseases;1990
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