(Q46455730)

22 December 2017

title

Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases (English)

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22 December 2017

1 reference

Marshall Summar

10

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author name string

Sabrina Mitchell

1

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22 December 2017

Clint Ellingson

2

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22 December 2017

Thomas Coyne

3

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22 December 2017

Lynn Hall

4

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22 December 2017

Meaghan Neill

5

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22 December 2017

Natalie Christian

6

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22 December 2017

Catherine Higham

7

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22 December 2017

Steven F Dobrowolski

8

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22 December 2017

Mendel Tuchman

9

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22 December 2017

Urea Cycle Disorder Consortium

11

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22 December 2017

publication date

1 January 2009

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22 December 2017

published in

Human Mutation

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22 December 2017

volume

30

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22 December 2017

issue

1

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22 December 2017

page(s)

56-60

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22 December 2017

Untersuchungen uber die Harnstoffbildung im Tierkörper

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20813

Effect of cardiopulmonary bypass on urea cycle intermediates and nitric oxide levels after congenital heart surgery

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20813

7 January 2021

Disorders of the urea cycle

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20813

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20813

7 January 2021

Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20813

7 January 2021

Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20813

7 January 2021

Reduced expression of endothelial nitric oxide synthase in the lungs of patients with pulmonary hypertension

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20813

7 January 2021

The metabolism of L-arginine and its significance for the biosynthesis of endothelium-derived relaxing factor: cultured endothelial cells recycle L-citrulline to L-arginine

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20813

7 January 2021

Genetic polymorphisms in arginase I and II and childhood asthma and atopy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20813

7 January 2021

Urea-cycle disorders as a paradigm for inborn errors of hepatocyte metabolism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20813

7 January 2021

Carbamoyl phosphate synthetase polymorphisms as a risk factor for necrotizing enterocolitis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20813

7 January 2021

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20813

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20813

7 January 2021

Nitric oxide precursors and congenital heart surgery: A randomized controlled trial of oral citrulline

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20813

7 January 2021

Current strategies for the management of neonatal urea cycle disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20813

7 January 2021

Characterization of genomic structure and polymorphisms in the human carbamyl phosphate synthetase I gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20813

7 January 2021

Relationship between carbamoyl-phosphate synthetase genotype and systemic vascular function

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20813

7 January 2021

Environmentally determined genetic expression: clinical correlates with molecular variants of carbamyl phosphate synthetase I.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20813

7 January 2021

Ethnic diversity in a critical gene responsible for glutathione synthesis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20813

7 January 2021

Identifiers

DOI

10.1002/HUMU.20813

1 reference

22 December 2017

PubMed ID

18666241

1 reference

22 December 2017