(Q24676845)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2378356%20AND%20SRC:MED&resulttype=core&format=json

28 September 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2378356%20AND%20SRC:MED&resulttype=core&format=json

28 September 2019

1 reference

Tanguay RM

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2378356%20AND%20SRC:MED&resulttype=core&format=json

28 September 2019

Valet JP

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2378356%20AND%20SRC:MED&resulttype=core&format=json

28 September 2019

Lescault A

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2378356%20AND%20SRC:MED&resulttype=core&format=json

28 September 2019

Duband JL

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2378356%20AND%20SRC:MED&resulttype=core&format=json

28 September 2019

Laberge C

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2378356%20AND%20SRC:MED&resulttype=core&format=json

28 September 2019

Lettre F

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2378356%20AND%20SRC:MED&resulttype=core&format=json

28 September 2019

Plante M

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2378356%20AND%20SRC:MED&resulttype=core&format=json

28 September 2019

language of work or name

English

0 references

publication date

1 August 1990

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2378356%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

28 September 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2378356%20AND%20SRC:MED&resulttype=core&format=json

28 September 2019

volume

47

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2378356%20AND%20SRC:MED&resulttype=core&format=json

28 September 2019

page(s)

308-316

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2378356%20AND%20SRC:MED&resulttype=core&format=json

28 September 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2378356%20AND%20SRC:MED&resulttype=core&format=json

Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some applications

28 September 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683717

High resolution two-dimensional electrophoresis of proteins

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683717

Assay of fumarylacetoacetate fumarylhydrolase in human liver-deficient activity in a case of hereditary tyrosinemia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683717

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683717

Access to a messenger RNA sequence or its protein product is not limited by tissue or species specificity

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683717

Hereditary tyrosinemia in a French Canadian isolate

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683717

Hereditary tyrosinemia type I--an overview

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683717

On the enzymic defects in hereditary tyrosinemia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683717

An octamer of histones in chromatin and free in solution

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683717

The occurrence of hepatoma in the chronic form of hereditary tyrosinemia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683717

Acute hereditary tyrosinaemia type I: clinical, biochemical and haematological studies in twins

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683717

Experience with 37 infants with tyrosinemia

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683717

Purification and properties of a diketo acid hydrolase from beef liver

30 May 2018

1 reference

12 December 2020

Hereditary tyrosinemia in the province of Quebec: Prevalence at birth and geographic distribution

1 reference

12 December 2020

Deficiency of fumarylacetoacetase in a patient with hereditary tyrosinemia

1 reference

12 December 2020

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

1 reference

12 December 2020

Enzyme Defect in a Case of Tyrosinemia Type I, Acute Form

1 reference

12 December 2020

Possibilities for treatment and for early prenatal diagnosis of hereditary tyrosinaemia

1 reference

12 December 2020

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

1 reference

12 December 2020

Purification of mRNA coding for the enzyme deficient in hereditary tyrosinemia, fumarylacetoacetate hydrolase

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

Identifiers

3833969

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

2 references

3833969

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2378356%20AND%20SRC:MED&resulttype=core&format=json

28 September 2019

2 references

Consolidated OpenCitations Corpus – April 2017

3833969