A search for the primary abnormality in adult-onset type II citrullinemia. (Q35194806)

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25 October 2019

title

A search for the primary abnormality in adult-onset type II citrullinemia (English)

1 reference

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25 October 2019

1 reference

Kobayashi K

1

1 reference

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25 October 2019

Shaheen N

2

1 reference

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25 October 2019

Kumashiro R

3

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25 October 2019

Tanikawa K

4

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25 October 2019

O'Brien WE

5

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25 October 2019

Beaudet AL

6

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25 October 2019

Saheki T

7

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25 October 2019

language of work or name

English

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publication date

1 November 1993

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8105687%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

25 October 2019

published in

1 reference

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25 October 2019

volume

53

1 reference

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25 October 2019

issue

5

1 reference

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25 October 2019

page(s)

1024-1030

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25 October 2019

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682318

Molecular analysis of argininosuccinate synthetase deficiency in human fibroblasts

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682318

Enzymatic analysis of citrullinemia (12 cases) in Japan

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682318

The human argininosuccinate synthetase locus and citrullinemia

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682318

Messenger RNA coding for argininosuccinate synthetase in citrullinemia

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682318

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682318

Galactosialidosis: a direct evidence that a 46-kilodalton protein restores deficient enzyme activities in fibroblasts

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682318

Galactosialidosis: molecular heterogeneity among distinct clinical phenotypes

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682318

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682318

Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682318

Analysis of a splice acceptor site mutation which produces multiple splicing abnormalities in the human argininosuccinate synthetase locus

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682318

Additional mutations in argininosuccinate synthetase causing citrullinemia

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682318

Orthotopic liver transplantation for urea cycle enzyme deficiency

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682318

Kinetic analysis of argininosuccinate synthetase in a variant form of citrullinaemia.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682318

Argininosuccinate synthetase activity in cultured skin fibroblasts of citrullinemic patients

27 September 2018

1 reference

12 December 2020

The relation between human lysosomal beta-galactosidase and its protective protein

1 reference

12 December 2020

Clinical application of enzyme immunoassay in the analysis of citrullinemia

1 reference

12 December 2020

Inbreeding in Japan: Results of a nation-wide study

1 reference

12 December 2020

Qualitative and quantitative abnormalities of argininosuccinate synthetase in citrullinemia

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Increased urinary excretion of argininosuccinate in type II citrullinemia

1 reference

12 December 2020

Analysis of deletions at the human argininosuccinate synthetase locus

1 reference

12 December 2020

Multilocus linkage analysis with the human argininosuccinate synthetase gene

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8105687%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

PubMed publication ID

8105687

1 reference