(Q57656592)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18925679%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

title

The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18925679%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18925679%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

author name string

Pamela Trapane

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18925679%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

Annette Feigenbaum

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18925679%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

Catherine E Keegan

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18925679%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

Stephen Cederbaum

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18925679%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

James Gibson

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18925679%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

Michael J Gambello

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18925679%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

Keith Vaux

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18925679%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

Patricia Ward

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18925679%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

Gregory M Rice

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18925679%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

Jon A Wolff

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18925679%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

William E O'Brien

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18925679%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

Ping Fang

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18925679%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

language of work or name

English

0 references

publication date

1 November 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18925679%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

24 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18925679%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

volume

146A

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18925679%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

issue

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18925679%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

page(s)

2885-2890

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18925679%20AND%20SRC:MED&resulttype=core&format=json

Postpartum "psychosis" in mild argininosuccinate synthetase deficiency

24 December 2019

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.32527

Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597641

Predicting the effects of amino acid substitutions on protein function

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597641

A pregnant patient with fulminant hepatic failure was found to carry a novel missense mutation in the argininosuccinate synthetase gene

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597641

In silico prediction of the deleterious effect of a mutation: proceed with caution in clinical genetics

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597641

Recent developments and new applications of tandem mass spectrometry in newborn screening

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597641

Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1).

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597641

Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597641

Outcome and survival of 88 patients with urea cycle disorders: a retrospective evaluation

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597641

Moderate citrullinaemia without hyperammonaemia in a child with mutated and deficient argininosuccinate synthetase

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597641

Human non-synonymous SNPs: server and survey

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597641

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

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597641

Molecular analysis of argininosuccinate synthetase deficiency in human fibroblasts

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597641

Variants of citrullinaemia

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597641

The human argininosuccinate synthetase locus and citrullinemia

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597641

Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597641

Prenatal diagnosis of citrullinaemia: review of a 10-year experience including recent use of DNA analysis

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597641

Additional mutations in argininosuccinate synthetase causing citrullinemia

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597641

Pregnancy in a healthy woman with untreated citrullinemia

2 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18925679

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/AJMG.A.32527

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18925679%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18925679%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

PubMed publication ID

18925679

1 reference