Hereditary tyrosinemia type I: strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis (Q42557586)

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scientific article published on August 1994

Language	Label	Description	Also known as
English	Hereditary tyrosinemia type I: strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis	scientific article published on August 1994

Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

2 November 2017

Hereditary tyrosinemia type I: strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis (English)

1 reference

Europe PubMed Central

PMC publication ID

2 November 2017

tyrosinemia type I

1 reference

based on heuristic

inferred from title

author name string

Demers SI

1

1 reference

Europe PubMed Central

PMC publication ID

2 November 2017

Phaneuf D

2

1 reference

Europe PubMed Central

PMC publication ID

2 November 2017

Tanguay RM

3

1 reference

Europe PubMed Central

PMC publication ID

2 November 2017

language of work or name

0 references

publication date

1 August 1994

1 reference

Europe PubMed Central

PMC publication ID

2 November 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

PMC publication ID

2 November 2017

55

1 reference

Europe PubMed Central

PMC publication ID

2 November 2017

2

1 reference

Europe PubMed Central

PMC publication ID

2 November 2017

327-333

1 reference

Europe PubMed Central

PMC publication ID

2 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918381

28 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918381

28 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918381

28 May 2018

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

1 reference

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28 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918381

28 May 2018

Construction of a genetic linkage map in man using restriction fragment length polymorphisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918381

28 May 2018

Tyrosinosis. A study of 6 cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918381

28 May 2018

Hereditary tyrosinemia in a French Canadian isolate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918381

28 May 2018

Hereditary tyrosinemia type I--an overview

1 reference

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28 May 2018

Tyrosinaemia type I: orthotopic liver transplantation as the only definitive answer to a metabolic as well as an oncological problem

1 reference

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28 May 2018

Liver transplantation for hereditary tyrosinemia: the Quebec experience

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918381

28 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918381

28 May 2018

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

1 reference

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28 May 2018

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918381

28 May 2018

Bg1II RFLP for the human fumarylacetoacetate hydrolase (FAH) gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918381

28 May 2018

Taql RFLP for the human fumarylacetoacetate hydrolase (FAH) gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918381

28 May 2018

Hereditary tyrosinemia type I: lack of correlation between clinical findings and amount of immunoreactive fumarylacetoacetase protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918381

28 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918381

28 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918381

28 May 2018

Detection of specific sequences among DNA fragments separated by gel electrophoresis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918381

28 May 2018

On the enzymic defects in hereditary tyrosinemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918381

28 May 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7913582

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7913582

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The human fumarylacetoacetase gene: characterisation of restriction fragment length polymorphisms and identification of haplotypes in tyrosinemia type 1 and pseudodeficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/7913582

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

2 November 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

2 November 2017

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