(Q34986724)

5 August 2017

title

Neonatal hyperammonaemia with complete absence of liver carbamyl phosphate synthetase activity (English)

1 reference

5 August 2017

S. Mantagos

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A206210

31 May 2022

S. Tsagaraki

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A206210

31 May 2022

E. A. Burgess

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A206210

31 May 2022

V. Oberholzer

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A206210

31 May 2022

T. Palmer

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A206210

31 May 2022

J. Sacks

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A206210

31 May 2022

S. Baibas

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A206210

31 May 2022

T. Valaes

8

0 references

language of work or name

English

0 references

publication date

1 March 1978

1 reference

full work available at URL

5 August 2017

https://europepmc.org/articles/PMC1545134

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A206210

https://europepmc.org/articles/PMC1545134?pdf=render

7 January 2023

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A206210

https://syndication.highwire.org/content/doi/10.1136/adc.53.3.230

7 January 2023

1 reference

https://api.crossref.org/works/10.1136/ADC.53.3.230

Archives of Disease in Childhood

7 January 2023

published in

1 reference

5 August 2017

volume

53

1 reference

5 August 2017

issue

3

1 reference

5 August 2017

page(s)

230-234

1 reference

Comparative biochemistry of urea synthesis. I. Methods for the quantitative assay of urea cycle enzymes in liver

5 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1545134

Hyperammonaemia: a deficiency of liver ornithine transcarbamylase. Occurrence in mother and child

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1545134

Carbamylphosphate synthetase deficiency in an infant with severe cerebral damage

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1545134

Hereditary metabolic disorders of the urea cycle

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1545134

Lethal neonatal deficiency of carbamyl phosphate synthetase.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1545134

A Case of Carbamyl Phosphate Synthetase Deficiency

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1545134

Increased excretion of N-carbamoyl compounds in patients with urea cycle defects

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1545134

Urea-Cycle Enzyme Deficiencies and an Increased Nitrogen Load Producing Hyperammonemia in Reye's Syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1545134

Transiently Reduced Activity of Carbamyl Phosphate Synthetase and Ornithine Transcarbamylase in Liver of Children with Reye's Syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1545134

Hyperornithinemia, Hyperammonemia, and Homocitrullinuria Associated with Decreased Carbamyl Phosphate Synthetase I Activity

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1545134

Treatment of Carbamyl Phosphate Synthetase Deficiency with Keto Analogues of Essential Amino Acids

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1545134

A SIMPLE METHOD FOR THE QUANTITATIVE DETERMINATION OF URINARY PSEUDOURIDINE AND SOME NEW ULTRAVIOLET-ABSORBING METABOLITES

8 July 2018

1 reference

12 December 2020

The free amino acids of human blood plasma

1 reference

12 December 2020

Massive pulmonary hemorrhage as a presenting feature in congenital hyperammonemia

1 reference

12 December 2020

Amino acid levels in patients with hyperammonaemia and argininosuccinic aciduria

1 reference

12 December 2020

Constitutional hyperammonemia with carbamoylphosphate synthetase deficiency. Course treatment during dietetic

1 reference

12 December 2020

Congenital hyperammonemia. Association with hyperglycinemia and decreased levels of carbamyl phosphate synthetase

1 reference

12 December 2020

Effects of pH on the kinetics of human liver ornithine-carbamyl phosphate transferase

1 reference

12 December 2020

Hereditary orotic aciduria. II. A urinary screening test

1 reference

12 December 2020

orotic aciduria

https://api.crossref.org/works/10.1136/ADC.53.3.230

18

1 reference

Amino Acid Metabolism and its Disorders

7 January 2023

https://api.crossref.org/works/10.1136/ADC.53.3.230

19

1 reference

7 January 2023

Identifiers

DOI

10.1136/ADC.53.3.230

1 reference

5 August 2017

1 reference

5 August 2017

1 reference