14 Article(s)Download |
PMID | Title | Pub. Year | #Total Relationships |
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 |