(Q35926625)

11 August 2017

Partial ornithine carbamyl transferase deficiency: an inborn error of the urea cycle presenting as orotic aciduria in a male infant (English)

1 reference

inherited metabolic disorder

11 August 2017

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5074751

14 April 2023

3

Scriver CR

1 reference

11 August 2017

P. MacLeod

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5074751

14 April 2023

S. Mackenzie

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5074751

14 April 2023

language of work or name

English

0 references

publication date

1 September 1972

1 reference

11 August 2017

9 September 1972

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=5074751

full work available at URL

14 April 2023

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/5074751/?tool=EBI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5074751

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/5074751/pdf/?tool=EBI

14 April 2023

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5074751

https://europepmc.org/articles/PMC1940805

14 April 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5074751

https://europepmc.org/articles/PMC1940805?pdf=render

14 April 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%3A5074751

Canadian Medical Association Journal

14 April 2023

published in

1 reference

11 August 2017

107

1 reference

11 August 2017

5

1 reference

11 August 2017

405-408

1 reference

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

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1940805

Periodic attacks of lethargy in a baby with ammonia intoxication due to a congenital defect in ureogenesis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1940805

Hyperammonaemia. A variant type of deficiency of liver ornithine transcarbamylase

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1940805

Lethal neonatal hyperammonaemia due to complete ornithine-transcarbamylase deficiency.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1940805

Hereditary orotic aciduria. II. A urinary screening test

11 July 2018

1 reference

12 December 2020

Enzymes in noncultured amniotic fluid cells

1 reference

12 December 2020

Biochemical investigations of hyperammonaemia

1 reference

12 December 2020

Hyperammonemia due to a mutant enzyme of ornithine transcarbamylase

1 reference

12 December 2020

Ornithine transcarbamylase, an isoelectric point (pI) isozyme in human liver and its deficiency

1 reference

12 December 2020

Hyperammonaemia. A new instance of an inborn enzymatic defect of the biosynthesis of urea

1 reference

12 December 2020

Identifiers

1 reference

11 August 2017

1 reference