(Q37783695)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20800523%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

title

Genetic, structural and biochemical basis of carbamoyl phosphate synthetase 1 deficiency (English)

1 reference

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13 February 2020

3

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13 February 2020

Belén Barcelona

4

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13 February 2020

author name string

Ana Isabel Martínez

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20800523%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Isabel Pérez-Arellano

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20800523%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Javier Cervera

5

1 reference

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13 February 2020

publication date

6 August 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20800523%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

13 February 2020

published in

1 reference

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13 February 2020

volume

101

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20800523%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

issue

4

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13 February 2020

page(s)

311-323

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20800523%20AND%20SRC:MED&resulttype=core&format=json

The carbamoyl-phosphate synthase family and carbamate kinase: structure-function studies

13 February 2020

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7 January 2021

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7 January 2021

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7 January 2021

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Molecular cloning, identification and characteristics of a novel isoform of carbamyl phosphate synthetase I in human testis

7 January 2021

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7 January 2021

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Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency

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7 January 2021

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Novel mutations (H337R and 238-362del) in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency

7 January 2021

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Role of Cys-1327 and Cys-1337 in redox sensitivity and allosteric monitoring in human carbamoyl phosphate synthetase

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Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1

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Neonatal pulmonary hypertension--urea-cycle intermediates, nitric oxide production, and carbamoyl-phosphate synthetase function.

7 January 2021

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Genetic variation in the mitochondrial enzyme carbamyl-phosphate synthetase I predisposes children to increased pulmonary artery pressure following surgical repair of congenital heart defects: a validated genetic association study

7 January 2021

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Carbamoyl phosphate synthetase polymorphisms as a risk factor for necrotizing enterocolitis

7 January 2021

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The T1405N carbamoyl phosphate synthetase polymorphism does not affect plasma arginine concentrations in preterm infants

7 January 2021

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Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression?

7 January 2021

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Catalytically active monomer and dimer forms of rat liver carbamoyl-phosphate synthetase

7 January 2021

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Mechanism of oligomerization of Escherichia coli carbamoyl phosphate synthetase and modulation by the allosteric effectors. A site-directed mutagenesis study

7 January 2021

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The Evolutionary History of the Ornithine Cycle as a Determinant of Its Structure and Regulation

7 January 2021

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inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/J.YMGME.2010.08.002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20800523%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

1 reference