Investigation of citrullinemia type I variants by in vitro expression studies (Q29147501)

arginine biosynthetic process

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

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Christoph Berning

1

1 reference

4 April 2017

Iris Bieger

2

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4 April 2017

Silke Pauli

3

1 reference

4 April 2017

Tim Vermeulen

4

1 reference

4 April 2017

Thomas Vogl

5

1 reference

4 April 2017

Till Rummel

6

1 reference

4 April 2017

Wolfgang Höhne

7

1 reference

4 April 2017

Hans Georg Koch

8

1 reference

4 April 2017

Boris Rolinski

9

1 reference

4 April 2017

Klaus Gempel

10

1 reference

4 April 2017

Johannes Häberle

Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients

11

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4 April 2017

1 October 2008

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4 April 2017

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4 April 2017

29

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4 April 2017

10

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4 April 2017

1222–1227

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4 April 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20784

7 January 2021

Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20784

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20784

7 January 2021

Prenatal diagnosis of citrullinemia: elevated levels of citrulline in the amniotic fluid in the three affected pregnancies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20784

7 January 2021

The 1.6 A crystal structure of E. coli argininosuccinate synthetase suggests a conformational change during catalysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20784

7 January 2021

https://api.crossref.org/works/10.1002%2FHUMU.20784

1 reference

7 January 2021

Pregnancy in a healthy woman with untreated citrullinemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20784

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20784

7 January 2021

Neonatal screening for citrullinaemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20784

7 January 2021

https://api.crossref.org/works/10.1002%2FHUMU.20784

1 reference

7 January 2021

Molecular analysis of argininosuccinate synthetase deficiency in human fibroblasts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20784

7 January 2021

Variants of citrullinaemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20784

7 January 2021