succinylacetone

fumarylacetoacetate hydrolase ; Homo sapiens







14 Article(s)
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1 33670179 Therapeutic Targeting of Fumaryl Acetoacetate Hydrolase in Hereditary Tyrosinemia Type I. 2021 Feb 11 1
2 29326876 Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient FAH alleles. 2018 Mar 1
3 27876694 Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency. 2017 Apr 4
4 23895425 Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I. 2014 Aug 2
5 20003495 A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report. 2009 Dec 15 1
6 16414314 A GC/MS validated method for the nanomolar range determination of succinylacetone in amniotic fluid and plasma: an analytical tool for tyrosinemia type I. 2006 Feb 17 2
7 11209059 Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1. 2001 Jan 16 3
8 7568087 Fungal metabolic model for human type I hereditary tyrosinaemia. 1995 Sep 26 1
9 3473612 The pre- and post-natal diagnosis of tyrosinemia type I and the detection of the carrier state by assay of fumarylacetoacetase. 1986 1
10 4064334 Concentrations of succinylacetone after homogentisate and tyrosine loading in healthy individuals with low fumarylacetoacetase activity. 1985 Nov 15 1
11 6652907 Biochemical studies on the enzymatic deficiencies in hereditary tyrosinemia. 1983 Oct 31 1
12 6826727 Hereditary tyrosinemia and the heme biosynthetic pathway. Profound inhibition of delta-aminolevulinic acid dehydratase activity by succinylacetone. 1983 Mar 2
13 7182986 Succinylacetone inhibits delta-aminolevulinate dehydratase and potentiates the drug and steroid induction of delta-aminolevulinate synthase in liver. 1982 1
14 270706 On the enzymic defects in hereditary tyrosinemia. 1977 Oct 1