(Q35604394)

9 August 2017

title

Family studies in ornithine transcarbamylase deficiency (English)

1 reference

ornithine carbamoyltransferase deficiency

9 August 2017

main subject

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A3355210

30 December 2022

author name string

L. G. Svirklys

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A3355210

30 December 2022

B. Wilcken

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A3355210

30 December 2022

J. Hammond

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A3355210

30 December 2022

A. G. Mackinlay

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A3355210

30 December 2022

W. J. O'Sullivan

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A3355210

30 December 2022

language of work or name

English

0 references

publication date

1 March 1988

1 reference

full work available at URL

9 August 2017

https://europepmc.org/articles/PMC1778759

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A3355210

https://europepmc.org/articles/PMC1778759?pdf=render

30 December 2022

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%3A3355210

https://syndication.highwire.org/content/doi/10.1136/adc.63.3.297

30 December 2022

1 reference

https://api.crossref.org/works/10.1136/ADC.63.3.297

Archives of Disease in Childhood

30 December 2022

published in

1 reference

9 August 2017

volume

63

1 reference

9 August 2017

issue

3

1 reference

9 August 2017

page(s)

297-302

1 reference

Conditions affecting the colorimetry of orotic acid and orotidine in urine.

9 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=1778759

Structure and Expression of a Complementary DNA for the Nuclear Coded Precursor of Human Mitochondrial Ornithine Transcarbamylase

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1778759

Evidence for x-linked dominant inheritance of ornithine transcarbamylase deficiency

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1778759

Ependymoblastoma associated with prenatal exposure to diphenylhydantoin and methylphenobarbitone

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1778759

Identification and application of additional restriction fragment length polymorphisms at the human ornithine transcarbamylase locus

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1778759

New mutation and prenatal diagnosis in ornithine transcarbamylase deficiency.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1778759

Gene deletion and restriction fragment length polymorphisms at the human ornithine transcarbamylase locus

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1778759

X-chromosome inactivation in human liver: confirmation of X-linkage of ornithine transcarbamylase

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1778759

Fetal liver biopsy for prenatal diagnosis of ornithine carbamyl transferase deficiency

12 July 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/3355210

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Failure of protein loading tests to identify heterozygosity for ornithine carbamoyltransferase deficiency

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/3355210

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/ADC.63.3.297

1 reference

9 August 2017

1 reference

9 August 2017

1 reference