(Q35174803)

6 August 2017

In vivo urea cycle flux distinguishes and correlates with phenotypic severity in disorders of the urea cycle (English)

1 reference

6 August 2017

B Lee

1

1 reference

6 August 2017

H Yu

2

1 reference

6 August 2017

F Jahoor

3

1 reference

6 August 2017

W O'Brien

4

1 reference

6 August 2017

A L Beaudet

5

1 reference

6 August 2017

P Reeds

6

1 reference

6 August 2017

language of work or name

English

0 references

publication date

1 July 2000

1 reference

6 August 2017

6

1 reference

Proceedings of the National Academy of Sciences of the United States of America

inferred from page(s)

published in

1 reference

6 August 2017

97

1 reference

6 August 2017

8021-8026

1 reference

6 August 2017

14

1 reference

Hepatocyte gene therapy in a large animal: a neonatal bovine model of citrullinemia

6 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=16663

In vivo nitrogen metabolism in ornithine transcarbamylase deficiency

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=16663

Urea cycle disorders: diagnosis, pathophysiology, and therapy.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=16663

Long-term treatment of girls with ornithine transcarbamylase deficiency

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=16663

Cerebral dysfunction in asymptomatic carriers of ornithine transcarbamylase deficiency

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=16663

Treatment of inborn errors of urea synthesis: activation of alternative pathways of waste nitrogen synthesis and excretion

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=16663

Neurologic outcome in children with inborn errors of urea synthesis. Outcome of urea-cycle enzymopathies.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=16663

Treatment of episodic hyperammonemia in children with inborn errors of urea synthesis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=16663

Natural history of symptomatic partial ornithine transcarbamylase deficiency.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=16663

Ornithine transcarbamylase deficiency--a cause of bizarre behavior in a man.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=16663

In vivo metabolism of nitrogen precursors for urea synthesis in the postprandial rat.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=16663

Orthotopic liver transplantation for urea cycle enzyme deficiency

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=16663

The phenotype of ostensibly healthy women who are carriers for ornithine transcarbamylase deficiency.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=16663

Identification of 'private' mutations in patients with ornithine transcarbamylase deficiency.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=16663

Liver transplantation: new indications in metabolic disorders?

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=16663

Allopurinol-induced orotidinuria. A test for mutations at the ornithine carbamoyltransferase locus in women

25 October 2018

1 reference

12 December 2020

Relative frequency of mutations causing ornithine transcarbamylase deficiency in 78 families

1 reference

12 December 2020

Clinical and biochemical heterogeneity in females of a large pedigree with ornithine transcarbamylase deficiency due to the R141Q mutation

1 reference

12 December 2020

Enteral glutamate is the preferential source for mucosal glutathione synthesis in fed piglets

1 reference

12 December 2020

Short-term metabolic fate of [13N]ammonia in rat liver in vivo

1 reference

12 December 2020

Allopurinol challenge test in children

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.140082197

1 reference

6 August 2017

0 references

1 reference

6 August 2017

1 reference