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FAH gene

Known as: FUMARYLACETOACETASE, fumarylacetoacetate hydrolase (fumarylacetoacetase), FUMARYLACETOACETATE HYDROLASE 
National Institutes of Health

Related topics

Related topics

4 relations
FAHD2A geneFumarylacetoacetaseTyrosinemia, Type I

Broader (1)

Genes

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
The Somatic FAH c.1061C>A Change Counteracts the Frequent FAH c.1062+5G>A Mutation and Permits U1snRNA-Based Splicing Correction
In tyrosinaemia type 1(HT1), a mosaic pattern of fumarylacetoacetase (FAH) immunopositive or immunonegative nodules in liver… 
2004
2004
X-ray structure of fumarylacetoacetate hydrolase family member Homo sapiens FLJ36880
Abstract The human protein FLJ36880 belongs to the fumarylacetoacetate hydrolase family. The X-ray structure of FLJ36880 has been… 
2002
2002
The crystal structure of HpcE, a bifunctional decarboxylase/isomerase with a multifunctional fold.
The structure of the bifunctional enzyme HpcE (OPET decarboxylase/HHDD isomerase) from Escherichia coli shows that the protein… 
Highly Cited
1994
Highly Cited
1994
A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I.
BACKGROUND Hereditary tyrosinemia type I is an autosomal recessive inborn error of metabolism caused by a deficiency of the… 
1993
1993
Localization of cells in the rat brain expressing fumarylacetoacetate hydrolase, the deficient enzyme in hereditary tyrosinemia type 1.
1987
1987
Type I Tyrosinemia: Lack of Immunologically Detectable Fumarylacetoacetase Enzyme Protein in Tissues and Cell Extracts
ABSTRACT. Type I hereditary tyrosinemia is characterized by the almost complete absence of fumarylacetoacetase in tissues and… 
1986
1986
The pre- and post-natal diagnosis of tyrosinemia type I and the detection of the carrier state by assay of fumarylacetoacetase.
Fumarylacetoacetase has been determined in fibroblasts, lymphocytes and/or liver tissue from 46 patients affected or presumed to… 
1983
1983
Urinary excretion of deuterated metabolites in patients with tyrosinemia type I after oral loading with deuterated L-tyrosine.
Highly Cited
1981
Highly Cited
1981
Deficiency of fumarylacetoacetase in a patient with hereditary tyrosinemia.
1979
1979
Hereditary tyrosinemia - fumarylacetoacetase deficiency
Succinylacetone which has been isolated from urine from patients with hereditary tyrosinemia inhibits porphobilinogen synthase… 
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