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English
Investigation of citrullinemia type I variants by in vitro expression studies
scientific journal article
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Statements
instance of
scholarly article
1 reference
stated in
PubMed
PubMed ID
18473344
retrieved
4 April 2017
title
Investigation of citrullinemia type I variants by in vitro expression studies
(English)
1 reference
stated in
PubMed
PubMed ID
18473344
retrieved
4 April 2017
main subject
Argininosuccinate synthase 1
1 reference
stated in
GOA release 2020-03-11
arginine biosynthetic process
1 reference
stated in
GOA release 2020-03-11
citrullinemia
1 reference
based on heuristic
inferred from title
author name string
Christoph Berning
series ordinal
1
1 reference
stated in
PubMed
PubMed ID
18473344
retrieved
4 April 2017
Iris Bieger
series ordinal
2
1 reference
stated in
PubMed
PubMed ID
18473344
retrieved
4 April 2017
Silke Pauli
series ordinal
3
1 reference
stated in
PubMed
PubMed ID
18473344
retrieved
4 April 2017
Tim Vermeulen
series ordinal
4
1 reference
stated in
PubMed
PubMed ID
18473344
retrieved
4 April 2017
Thomas Vogl
series ordinal
5
1 reference
stated in
PubMed
PubMed ID
18473344
retrieved
4 April 2017
Till Rummel
series ordinal
6
1 reference
stated in
PubMed
PubMed ID
18473344
retrieved
4 April 2017
Wolfgang Höhne
series ordinal
7
1 reference
stated in
PubMed
PubMed ID
18473344
retrieved
4 April 2017
Hans Georg Koch
series ordinal
8
1 reference
stated in
PubMed
PubMed ID
18473344
retrieved
4 April 2017
Boris Rolinski
series ordinal
9
1 reference
stated in
PubMed
PubMed ID
18473344
retrieved
4 April 2017
Klaus Gempel
series ordinal
10
1 reference
stated in
PubMed
PubMed ID
18473344
retrieved
4 April 2017
Johannes Häberle
series ordinal
11
1 reference
stated in
PubMed
PubMed ID
18473344
retrieved
4 April 2017
publication date
1 October 2008
1 reference
stated in
PubMed
PubMed ID
18473344
retrieved
4 April 2017
published in
Human Mutation
1 reference
stated in
PubMed
PubMed ID
18473344
retrieved
4 April 2017
volume
29
1 reference
stated in
PubMed
PubMed ID
18473344
retrieved
4 April 2017
issue
10
1 reference
stated in
PubMed
PubMed ID
18473344
retrieved
4 April 2017
page(s)
1222–1227
1 reference
stated in
PubMed
PubMed ID
18473344
retrieved
4 April 2017
cites work
Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20784
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20784
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1).
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20784
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Prenatal diagnosis of citrullinemia: elevated levels of citrulline in the amniotic fluid in the three affected pregnancies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20784
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The 1.6 A crystal structure of E. coli argininosuccinate synthetase suggests a conformational change during catalysis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20784
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Urea cycle disorders
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20784
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Pregnancy in a healthy woman with untreated citrullinemia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20784
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Moderate citrullinaemia without hyperammonaemia in a child with mutated and deficient argininosuccinate synthetase
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20784
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Neonatal screening for citrullinaemia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20784
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Q55982140
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20784
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular analysis of argininosuccinate synthetase deficiency in human fibroblasts
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20784
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Variants of citrullinaemia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20784
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1002/HUMU.20784
1 reference
stated in
PubMed
PubMed ID
18473344
retrieved
4 April 2017
PubMed ID
18473344
1 reference
stated in
PubMed
PubMed ID
18473344
retrieved
4 April 2017
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