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English
Evidence of true genotype-phenotype correlation in primary hyperoxaluria type 1
scientific article published on 01 March 2010
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
20150937
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20150937%20AND%20SRC:MED&resulttype=core&format=json
retrieved
18 January 2020
title
Evidence of true genotype-phenotype correlation in primary hyperoxaluria type 1
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
20150937
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20150937%20AND%20SRC:MED&resulttype=core&format=json
retrieved
18 January 2020
main subject
genotype-phenotype correlation
1 reference
based on heuristic
inferred from title
primary hyperoxaluria
1 reference
based on heuristic
inferred from title
primary hyperoxaluria type I
1 reference
based on heuristic
inferred from title
phenotype
1 reference
based on heuristic
inferred from title
author name string
Bernd Hoppe
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
20150937
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20150937%20AND%20SRC:MED&resulttype=core&format=json
retrieved
18 January 2020
language of work or name
English
0 references
publication date
1 March 2010
1 reference
stated in
Europe PubMed Central
PubMed publication ID
20150937
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20150937%20AND%20SRC:MED&resulttype=core&format=json
retrieved
18 January 2020
published in
Kidney International
1 reference
stated in
Europe PubMed Central
PubMed publication ID
20150937
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20150937%20AND%20SRC:MED&resulttype=core&format=json
retrieved
18 January 2020
volume
77
1 reference
stated in
Europe PubMed Central
PubMed publication ID
20150937
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20150937%20AND%20SRC:MED&resulttype=core&format=json
retrieved
18 January 2020
issue
5
1 reference
stated in
Europe PubMed Central
PubMed publication ID
20150937
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20150937%20AND%20SRC:MED&resulttype=core&format=json
retrieved
18 January 2020
page(s)
383-385
1 reference
stated in
Europe PubMed Central
PubMed publication ID
20150937
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20150937%20AND%20SRC:MED&resulttype=core&format=json
retrieved
18 January 2020
exact match
https://scigraph.springernature.com/pub.10.1038/ki.2009.471
0 references
cites work
The primary hyperoxalurias
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FKI.2009.471
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FKI.2009.471
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genotype-phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FKI.2009.471
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Primary hyperoxaluria type 1 in The Netherlands: prevalence and outcome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FKI.2009.471
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A United States survey on diagnosis, treatment, and outcome of primary hyperoxaluria
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FKI.2009.471
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Changing pattern of primary hyperoxaluria in Switzerland
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FKI.2009.471
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Unusual painful sclerotic plaques on the legs of a patient with late diagnosis of primary hyperoxaluria type I
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FKI.2009.471
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A vertical (pseudodominant) pattern of inheritance in the autosomal recessive disease primary hyperoxaluria type 1: lack of relationship between genotype, enzymic phenotype, and disease severity
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FKI.2009.471
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular aetiology of primary hyperoxaluria type 1
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FKI.2009.471
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FKI.2009.471
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Pyridoxine effect in type I primary hyperoxaluria is associated with the most common mutant allele
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FKI.2009.471
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical implications of mutation analysis in primary hyperoxaluria type 1.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FKI.2009.471
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Presentation and role of transplantation in adult patients with type 1 primary hyperoxaluria and the I244T AGXT mutation: Single-center experience
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FKI.2009.471
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Primary hyperoxaluria--the German experience
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FKI.2009.471
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1038/KI.2009.471
1 reference
stated in
Europe PubMed Central
PubMed publication ID
20150937
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20150937%20AND%20SRC:MED&resulttype=core&format=json
retrieved
18 January 2020
Dimensions Publication ID
1013598348
0 references
PubMed publication ID
20150937
1 reference
stated in
Europe PubMed Central
PubMed publication ID
20150937
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20150937%20AND%20SRC:MED&resulttype=core&format=json
retrieved
18 January 2020
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