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English
COG5-CDG with a Mild Neurohepatic Presentation.
scientific article published on 22 September 2011
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scholarly article
1 reference
stated in
Europe PubMed Central
PMC publication ID
3509859
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23430875%20AND%20SRC:MED&resulttype=core&format=json
retrieved
24 February 2020
case report
0 references
title
COG5-CDG with a Mild Neurohepatic Presentation
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
3509859
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23430875%20AND%20SRC:MED&resulttype=core&format=json
retrieved
24 February 2020
author
Domenico Garozzo
series ordinal
4
1 reference
stated in
Europe PubMed Central
PMC publication ID
3509859
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23430875%20AND%20SRC:MED&resulttype=core&format=json
retrieved
24 February 2020
author name string
C W Fung
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
3509859
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23430875%20AND%20SRC:MED&resulttype=core&format=json
retrieved
24 February 2020
G Matthijs
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMC publication ID
3509859
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23430875%20AND%20SRC:MED&resulttype=core&format=json
retrieved
24 February 2020
L Sturiale
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMC publication ID
3509859
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23430875%20AND%20SRC:MED&resulttype=core&format=json
retrieved
24 February 2020
K Y Wong
series ordinal
5
1 reference
stated in
Europe PubMed Central
PMC publication ID
3509859
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23430875%20AND%20SRC:MED&resulttype=core&format=json
retrieved
24 February 2020
R Wong
series ordinal
6
1 reference
stated in
Europe PubMed Central
PMC publication ID
3509859
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23430875%20AND%20SRC:MED&resulttype=core&format=json
retrieved
24 February 2020
V Wong
series ordinal
7
1 reference
stated in
Europe PubMed Central
PMC publication ID
3509859
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23430875%20AND%20SRC:MED&resulttype=core&format=json
retrieved
24 February 2020
J Jaeken
series ordinal
8
1 reference
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Europe PubMed Central
PMC publication ID
3509859
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23430875%20AND%20SRC:MED&resulttype=core&format=json
retrieved
24 February 2020
publication date
22 September 2011
1 reference
stated in
Europe PubMed Central
PMC publication ID
3509859
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23430875%20AND%20SRC:MED&resulttype=core&format=json
retrieved
24 February 2020
published in
Journal of Inherited Metabolic Disorders Reports
1 reference
stated in
Europe PubMed Central
PMC publication ID
3509859
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23430875%20AND%20SRC:MED&resulttype=core&format=json
retrieved
24 February 2020
volume
3
1 reference
stated in
Europe PubMed Central
PMC publication ID
3509859
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23430875%20AND%20SRC:MED&resulttype=core&format=json
retrieved
24 February 2020
page(s)
67-70
1 reference
stated in
Europe PubMed Central
PMC publication ID
3509859
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23430875%20AND%20SRC:MED&resulttype=core&format=json
retrieved
24 February 2020
cites work
How Golgi glycosylation meets and needs trafficking: the case of the COG complex
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=3509859
retrieved
26 October 2017
Molecular organization of the COG vesicle tethering complex
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=3509859
retrieved
26 October 2017
Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation
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=3509859
retrieved
26 October 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=3509859
retrieved
26 October 2017
Golgi function and dysfunction in the first COG4-deficient CDG type II patient
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=3509859
retrieved
26 October 2017
Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa.
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=3509859
retrieved
26 October 2017
COG defects, birth and rise!
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=3509859
retrieved
26 October 2017
Deficiencies in subunits of the Conserved Oligomeric Golgi (COG) complex define a novel group of Congenital Disorders of Glycosylation
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=3509859
retrieved
26 October 2017
Congenital disorders of glycosylation: a rapidly expanding disease family
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=3509859
retrieved
26 October 2017
Genetic defects in the human glycome
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=3509859
retrieved
26 October 2017
Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.
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=3509859
retrieved
26 October 2017
Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome
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=3509859
retrieved
29 May 2018
Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation.
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=3509859
retrieved
17 August 2018
Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1.
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=3509859
retrieved
17 August 2018
Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis
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=3509859
retrieved
17 August 2018
Identifiers
DOI
10.1007/8904_2011_61
1 reference
stated in
Europe PubMed Central
PMC publication ID
3509859
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23430875%20AND%20SRC:MED&resulttype=core&format=json
retrieved
24 February 2020
PMC publication ID
3509859
1 reference
stated in
Europe PubMed Central
PMC publication ID
3509859
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23430875%20AND%20SRC:MED&resulttype=core&format=json
retrieved
24 February 2020
PubMed publication ID
23430875
1 reference
stated in
Europe PubMed Central
PMC publication ID
3509859
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23430875%20AND%20SRC:MED&resulttype=core&format=json
retrieved
24 February 2020
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