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Under recognition of late onset ornithine transcarbamylase deficiency
scientific article
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Statements
instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMCID
1718304
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10799432%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 November 2019
title
Under recognition of late onset ornithine transcarbamylase deficiency
(English)
1 reference
stated in
Europe PubMed Central
PMCID
1718304
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10799432%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 November 2019
author
Matti Salo
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMCID
1718304
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10799432%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 November 2019
author name string
R E Schultz
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMCID
1718304
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10799432%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 November 2019
language of work or name
English
0 references
publication date
1 May 2000
1 reference
stated in
Europe PubMed Central
PMCID
1718304
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10799432%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 November 2019
published in
Archives of Disease in Childhood
1 reference
stated in
Europe PubMed Central
PMCID
1718304
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10799432%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 November 2019
volume
82
1 reference
stated in
Europe PubMed Central
PMCID
1718304
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10799432%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 November 2019
issue
5
1 reference
stated in
Europe PubMed Central
PMCID
1718304
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10799432%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 November 2019
page(s)
390-391
1 reference
stated in
Europe PubMed Central
PMCID
1718304
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10799432%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 November 2019
cites work
The biochemical and molecular spectrum of ornithine transcarbamylase deficiency.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718304
retrieved
27 July 2018
Ornithine transcarbamylase deficiency: characterization of gene mutations and polymorphisms
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718304
retrieved
27 July 2018
Late-onset ornithine transcarbamylase deficiency in male patients
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718304
retrieved
27 July 2018
Improved molecular diagnostics for ornithine transcarbamylase deficiency
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718304
retrieved
27 July 2018
A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/10799432
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Asymptomatic and late-onset ornithine transcarbamylase (OTC) deficiency in males of a five-generation family, caused by an A208T mutation
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/10799432
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1136/ADC.82.5.390
1 reference
stated in
Europe PubMed Central
PMCID
1718304
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10799432%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 November 2019
PMCID
1718304
1 reference
stated in
Europe PubMed Central
PMCID
1718304
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10799432%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 November 2019
PubMed ID
10799432
1 reference
stated in
Europe PubMed Central
PMCID
1718304
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10799432%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 November 2019
ResearchGate publication ID
12518828
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