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De Barsy syndrome and ATP6V0A2-CDG
scientific article
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Statements
instance of
scholarly article
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title
De Barsy syndrome and ATP6V0A2-CDG
(English)
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main subject
De Barsy syndrome
1 reference
based on heuristic
inferred from title
author
D Quelhas
object named as
Dulce Quelhas
series ordinal
2
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author name string
Elisa Leao-Teles
series ordinal
1
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Laura Vilarinho
series ordinal
3
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Jaak Jaeken
series ordinal
4
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language of work or name
English
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publication date
May 2010
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published in
European Journal of Human Genetics
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volume
18
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page(s)
526; author reply 526
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issue
5
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cites work
Mutations in PYCR1 cause cutis laxa with progeroid features
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=2987315
retrieved
24 March 2017
Autosomal recessive cutis laxa syndrome revisited
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=2987315
retrieved
24 March 2017
CDG nomenclature: time for a change!
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=2987315
retrieved
27 September 2017
De Barsy syndrome: a review of the phenotype
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=2987315
retrieved
27 September 2017
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.
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=2987315
retrieved
27 September 2017
On the nomenclature of congenital disorders of glycosylation (CDG).
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEJHG.2009.218
retrieved
21 January 2018
Identifiers
DOI
10.1038/EJHG.2009.218
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Dimensions Publication ID
1049634148
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PMCID
2987315
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PubMed ID
20010974
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ResearchGate publication ID
40688464
0 references
Springer Nature article ID
10.1038/ejhg.2009.218
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