(Q36403674)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16494511%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

review article

1 reference

title

Current strategies for the treatment of hereditary tyrosinemia type I (English)

1 reference

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17 January 2020

3

1 reference

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17 January 2020

author name string

Merja Ashorn

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16494511%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Sari Pitkänen

series ordinal

2

1 reference

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17 January 2020

Markku Heikinheimo

series ordinal

4

1 reference

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17 January 2020

publication date

1 January 2006

1 reference

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17 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16494511%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

volume

8

1 reference

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17 January 2020

issue

1

1 reference

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17 January 2020

page(s)

47-54

1 reference

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https://scigraph.springernature.com/pub.10.2165/00148581-200608010-00004

17 January 2020

exact match

0 references

cites work

Structural organization and analysis of the human fumarylacetoacetate hydrolase gene in tyrosinemia type I.

1 reference

Crossref

https://api.crossref.org/works/10.2165%2F00148581-200608010-00004

Deficient fumarylacetoacetate fumarylhydrolase activity in lymphocytes and fibroblasts from patients with hereditary tyrosinemia

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.2165%2F00148581-200608010-00004

Genetic epidemiology of hereditary tyrosinemia in Quebec and in Saguenay-Lac-St-Jean

21 January 2018

1 reference

12 December 2020

Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I)

1 reference

12 December 2020

Hereditary tyrosinemias (type I): a new vista on tyrosine toxicity and cancer

1 reference

12 December 2020

alpha1-Fetoprotein measurement in blood spotted on paper: discriminating test for hereditary tyrosinemia in neonatal mass screening

1 reference

12 December 2020

The occurrence of hepatoma in the chronic form of hereditary tyrosinemia

1 reference

12 December 2020

Effects of succinylacetone on methyl alpha-D-glucoside uptake by the rat renal tubule.

1 reference

12 December 2020

Tyrosinaemia--treatment and outcome

1 reference

12 December 2020

Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I

1 reference

12 December 2020

On the enzymic defects in hereditary tyrosinemia

1 reference

12 December 2020

Serum levels of oncofetal markers CA 125, CA 19-9, and alpha-fetoprotein in children with hereditary tyrosinemia type I

1 reference

12 December 2020

Biochemical studies of a patient with hereditary hepatorenal tyrosinemia: evidence of glutathione deficiency

1 reference

12 December 2020

Pitfalls in the initial diagnosis of tyrosinemia: three case reports and a review of the literature

1 reference

12 December 2020

Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15

1 reference

12 December 2020

Tyrosinaemia type I with normal levels of plasma tyrosine

1 reference

12 December 2020

Mutation analysis for prenatal diagnosis of hereditary tyrosinaemia type 1

1 reference

12 December 2020

Stable isotope dilution analysis of succinylacetone using electron capture negative ion mass fragmentography: an accurate approach to the pre- and neonatal diagnosis of hereditary tyrosinemia type I.

1 reference

12 December 2020

Self-induced correction of the genetic defect in tyrosinemia type I

1 reference

12 December 2020

Hepatocytes corrected by gene therapy are selected in vivo in a murine model of hereditary tyrosinaemia type I.

1 reference

12 December 2020

Hereditary tyrosinemia type I (chronic form): pathologic findings in the liver

1 reference

12 December 2020

Diagnosis and management of tyrosinemia type I.

1 reference

12 December 2020

Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase

1 reference

12 December 2020

Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity

1 reference

12 December 2020

Early liver transplantation is indicated for tyrosinemia type I

1 reference

12 December 2020

Hereditary tyrosinemia type I--an overview

1 reference

12 December 2020

Fumarylacetoacetase activity in cultured and non-cultured chorionic villus cells, and assay in two high-risk pregnancies

1 reference

12 December 2020

Biphasic reduction and concanavalin A binding properties of serum alpha-fetoprotein in preterm and term infants

1 reference

12 December 2020

Tyrosinaemia type I — an update

1 reference

12 December 2020

Ex vivo hepatic gene therapy of a mouse model of Hereditary Tyrosinemia Type I.

1 reference

12 December 2020

Homotransplantation of the liver in a patientwith hepatoma and hereditary tyrosinemia

1 reference

12 December 2020

Hereditary tyrosinemia in a French Canadian isolate

1 reference

12 December 2020

Type I tyrosinemia: lack of immunologically detectable fumarylacetoacetase enzyme protein in tissues and cell extracts

1 reference

12 December 2020

Tyrosinemia I, a model for human diseases mediated by 2-oxoacid-utilizing dioxygenases: hepatotoxin suppression by NTBC does not normalize hepatic collagen metabolism

1 reference

12 December 2020

Liver transplantation for tyrosinemia. A review of 10 cases from the University of Pittsburgh

1 reference

12 December 2020

Extensive changes in liver gene expression induced by hereditary tyrosinemia type I are not normalized by treatment with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC).

1 reference

12 December 2020

Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase

1 reference

12 December 2020

Serum alpha-fetoprotein and its lectin reactivity in liver diseases: a review

1 reference

12 December 2020

Nontransplant treatment of tyrosinemia

1 reference

12 December 2020

Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I

1 reference

12 December 2020

Prenatal diagnosis of hereditary tyrosinemia by determination of fumarylacetoacetase in cultured amniotic fluid cells

1 reference

12 December 2020

Hereditary tyrosinemia type I: a new clinical classification with difference in prognosis on dietary treatment.

1 reference

12 December 2020

Complete rescue of lethal albino c14CoS mice by null mutation of 4-hydroxyphenylpyruvate dioxygenase and induction of apoptosis of hepatocytes in these mice by in vivo retrieval of the tyrosine catabolic pathway

1 reference

12 December 2020

Plasma antioxidant capacity in two cases of tyrosinaemia type 1: one case treated with NTBC

1 reference

12 December 2020

Ophthalmic follow-up of patients with tyrosinaemia type I on NTBC.

1 reference

12 December 2020

Damage to rat liver mitochondria promoted by delta-aminolevulinic acid-generated reactive oxygen species: connections with acute intermittent porphyria and lead-poisoning

1 reference

12 December 2020

Adenovirus-mediated gene therapy in a mouse model of hereditary tyrosinemia type I.

1 reference

12 December 2020

The pre- and post-natal diagnosis of tyrosinemia type I and the detection of the carrier state by assay of fumarylacetoacetase

1 reference

12 December 2020

Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries

1 reference

12 December 2020

Reversibility of cirrhotic regenerative liver nodules upon NTBC treatment in a child with tyrosinaemia type I.

1 reference

12 December 2020

The mutagenicity of the tyrosine metabolite, fumarylacetoacetate, is enhanced by glutathione depletion

1 reference

12 December 2020

A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I

1 reference

12 December 2020

Hepatocyte injury in tyrosinemia type 1 is induced by fumarylacetoacetate and is inhibited by caspase inhibitors

1 reference

12 December 2020

Biochemical studies on the enzymatic deficiencies in hereditary tyrosinemia

1 reference

12 December 2020

Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient

1 reference

12 December 2020

Tyrosine and its catabolites: from disease to cancer

1 reference

12 December 2020

Prenatal diagnosis of hereditary tyrosinaemia: measurement of succinylacetone in amniotic fluid

1 reference

12 December 2020

Hereditary tyrosinemia and the heme biosynthetic pathway. Profound inhibition of delta-aminolevulinic acid dehydratase activity by succinylacetone

1 reference

12 December 2020

The nephropathy of type I tyrosinemia after liver transplantation

1 reference

12 December 2020

Different clinical forms of hereditary tyrosinemia (type I) in patients with identical genotypes.

1 reference

12 December 2020

Contribution of extrahepatic tissues to biochemical abnormalities in hereditary tyrosinemia type I: study of three patients after liver transplantation

1 reference

12 December 2020

Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1

1 reference

12 December 2020

Liver transplantation in a 23-year-old tyrosinaemia patient: effects on the renal tubular dysfunction

1 reference

12 December 2020

Tyrosinemia: a review

1 reference

12 December 2020

Tyrosinaemia type I and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione).

1 reference

12 December 2020