Frequent mutation reversion inversely correlates with clinical severity in a genetic liver disease, hereditary tyrosinemia (Q44703676)

5 December 2017

Frequent mutation reversion inversely correlates with clinical severity in a genetic liver disease, hereditary tyrosinemia (English)

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5 December 2017

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4

Robert M Tanguay

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5 December 2017

Sylvie I Demers

1

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5 December 2017

Pierre Russo

series ordinal

2

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5 December 2017

Francine Lettre

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3

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5 December 2017

language of work or name

English

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publication date

1 December 2003

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5 December 2017

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5 December 2017

34

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5 December 2017

12

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5 December 2017

1313-1320

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On the enzymic defects in hereditary tyrosinemia

5 December 2017

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https://api.crossref.org/works/10.1016%2FS0046-8177%2803%2900406-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0046-8177%2803%2900406-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0046-8177%2803%2900406-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0046-8177%2803%2900406-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0046-8177%2803%2900406-4

7 January 2021

Frequency of the IVS12 + 5G-->A splice mutation of the fumarylacetoacetate hydrolase gene in carriers of hereditary tyrosinaemia in the French Canadian population of Saguenay-Lac-St-Jean

1 reference

https://api.crossref.org/works/10.1016%2FS0046-8177%2803%2900406-4

7 January 2021

Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: Overview

1 reference

https://api.crossref.org/works/10.1016%2FS0046-8177%2803%2900406-4

7 January 2021

Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients

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https://api.crossref.org/works/10.1016%2FS0046-8177%2803%2900406-4

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0046-8177%2803%2900406-4

7 January 2021

Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect

1 reference

https://api.crossref.org/works/10.1016%2FS0046-8177%2803%2900406-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0046-8177%2803%2900406-4

7 January 2021

A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0046-8177%2803%2900406-4

7 January 2021

Rapid nonradioactive assay for the detection of the common French Canadian tyrosinemia type I mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0046-8177%2803%2900406-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0046-8177%2803%2900406-4

7 January 2021

Two novel mutations involved in hereditary tyrosinemia type I

1 reference

https://api.crossref.org/works/10.1016%2FS0046-8177%2803%2900406-4

7 January 2021

Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I

1 reference

https://api.crossref.org/works/10.1016%2FS0046-8177%2803%2900406-4

7 January 2021

Incidence and diagnostic features of macroregenerative nodules vs. small hepatocellular carcinoma in cirrhotic livers

1 reference

https://api.crossref.org/works/10.1016%2FS0046-8177%2803%2900406-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0046-8177%2803%2900406-4

7 January 2021

Neurologic crises in hereditary tyrosinemia

1 reference

https://api.crossref.org/works/10.1016%2FS0046-8177%2803%2900406-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0046-8177%2803%2900406-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0046-8177%2803%2900406-4

7 January 2021

Pharmacological correction of neonatal lethal hepatic dysfunction in a murine model of hereditary tyrosinaemia type I.

1 reference

https://api.crossref.org/works/10.1016%2FS0046-8177%2803%2900406-4

7 January 2021

In vivo selection of hepatocytes transduced with adeno-associated viral vectors.

1 reference

https://api.crossref.org/works/10.1016%2FS0046-8177%2803%2900406-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0046-8177%2803%2900406-4

7 January 2021

Cyclin B-dependent kinase and caspase-1 activation precedes mitochondrial dysfunction in fumarylacetoacetate-induced apoptosis.

1 reference

https://api.crossref.org/works/10.1016%2FS0046-8177%2803%2900406-4

7 January 2021

Mechanisms and consequences of somatic mosaicism in humans

1 reference

https://api.crossref.org/works/10.1016%2FS0046-8177%2803%2900406-4

7 January 2021

In vivo suppressor mutations correct a murine model of hereditary tyrosinemia type I.

1 reference

https://api.crossref.org/works/10.1016%2FS0046-8177%2803%2900406-4

7 January 2021

10.1016/S0046-8177(03)00406-4

Identifiers

DOI

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5 December 2017

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