(Q73387167)

English

Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia

scientific article published on 01 December 2000

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11153906%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11153906%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

citrullinemia type II

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

author name string

T Yasuda

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11153906%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

N Yamaguchi

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11153906%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

K Kobayashi

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11153906%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

I Nishi

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11153906%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

H Horinouchi

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11153906%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

M A Jalil

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11153906%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

M X Li

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11153906%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

M Ushikai

8

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11153906%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

M Iijima

9

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11153906%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

I Kondo

10

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11153906%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

T Saheki

11

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11153906%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

publication date

1 December 2000

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11153906%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11153906%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

107

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11153906%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11153906%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

537-545

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11153906%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

https://scigraph.springernature.com/pub.10.1007/s004390000430

0 references

Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrullinemia

1 reference

https://api.crossref.org/works/10.1007%2FS004390000430

21 January 2018

The Heterogeneous Distribution of Argininosuccinate Synthetase in the Liver of Type II Citrullinemic Patients: Its Specificity and Possible Clinical Implications

1 reference

https://api.crossref.org/works/10.1007%2FS004390000430

21 January 2018

A search for the primary abnormality in adult-onset type II citrullinemia.

1 reference

https://pubmed.ncbi.nlm.nih.gov/11153906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Enzymatic analysis of citrullinemia (12 cases) in Japan.

1 reference

https://pubmed.ncbi.nlm.nih.gov/11153906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/11153906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of the enzyme abnormality in eight cases of neonatal and infantile citrullinaemia in Japan

1 reference

https://pubmed.ncbi.nlm.nih.gov/11153906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/11153906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Role of argininosuccinate synthetase in the regulation of urea synthesis in the rat and argininosuccinate synthetase-associated metabolic disorder in man

1 reference

https://pubmed.ncbi.nlm.nih.gov/11153906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Argininosuccinate synthetase activity in cultured skin fibroblasts of citrullinemic patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/11153906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hepatocerebral degeneration, a special type

1 reference

https://pubmed.ncbi.nlm.nih.gov/11153906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular analysis of argininosuccinate synthetase deficiency in human fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/11153906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Orthotopic liver transplantation for urea cycle enzyme deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/11153906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Orthotopic liver transplantation for adult-onset type II citrullinaemia.

1 reference

https://pubmed.ncbi.nlm.nih.gov/11153906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of a second member of the subfamily of calcium-binding mitochondrial carriers expressed in human non-excitable tissues

1 reference

https://pubmed.ncbi.nlm.nih.gov/11153906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pancreatic secretory trypsin inhibitor gene is highly expressed in the liver of adult-onset type II citrullinemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/11153906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Additional mutations in argininosuccinate synthetase causing citrullinemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/11153906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical application of enzyme immunoassay in the analysis of citrullinemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/11153906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Channeling of urea cycle intermediates in situ in permeabilized hepatocytes

1 reference

https://pubmed.ncbi.nlm.nih.gov/11153906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Qualitative and quantitative abnormalities of argininosuccinate synthetase in citrullinemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/11153906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Level of translatable messenger RNA coding for argininosuccinate synthetase in the liver of the patients with quantitative-type citrullinemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/11153906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complete neurological recovery of an adult patient with type II citrullinemia after living related partial liver transplantation

1 reference

https://pubmed.ncbi.nlm.nih.gov/11153906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structure of an abnormal messenger RNA for argininosuccinate synthetase in citrullinemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/11153906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sibling cases of chronic recurrent hepatocerebral disease with hypercitrullinemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/11153906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/11153906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genomic structure of the adult-onset type II citrullinemia gene, SLC25A13, and cloning and expression of its mouse homologue.

1 reference

https://pubmed.ncbi.nlm.nih.gov/11153906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Increased urinary excretion of argininosuccinate in type II citrullinemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/11153906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Living-related liver transplantation for type II citrullinemia using a graft from heterozygote donor

1 reference

https://pubmed.ncbi.nlm.nih.gov/11153906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Messenger RNA coding for argininosuccinate synthetase in citrullinemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/11153906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pancreatic secretory trypsin inhibitor as a diagnostic marker for adult-onset type II citrullinemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/11153906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Case report: recurrent hyperammonaemic encephalopathy due to citrullinaemia in a 52 year old man.

1 reference

https://pubmed.ncbi.nlm.nih.gov/11153906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular cloning of Aralar, a new member of the mitochondrial carrier superfamily that binds calcium and is present in human muscle and brain

1 reference

https://pubmed.ncbi.nlm.nih.gov/11153906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Assignment of the SLC25A12 gene coding for the human calcium-binding mitochondrial solute carrier protein aralar to human chromosome 2q24

1 reference

https://pubmed.ncbi.nlm.nih.gov/11153906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular basis of enzyme abnormalities in urea cycle disorders. With special reference to citrullinemia and argininosuccinic aciduria

1 reference

https://pubmed.ncbi.nlm.nih.gov/11153906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations and DNA diagnoses of classical citrullinemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/11153906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary disorders of the urea cycle in man: biochemical and molecular approaches.

1 reference

https://pubmed.ncbi.nlm.nih.gov/11153906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diurnal fluctuation of blood ammonia levels in adult-type citrullinemia.

1 reference

https://pubmed.ncbi.nlm.nih.gov/11153906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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