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English
Fumarate hydratase deficiency
scientific article published on 01 June 1998
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9700607
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9700607%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 December 2019
title
Fumarate hydratase deficiency
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9700607
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9700607%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 December 2019
author
Eleonora Lamantea
series ordinal
6
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9700607
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9700607%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 December 2019
Franco Taroni
series ordinal
7
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9700607
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9700607%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 December 2019
author name string
E Bonioli
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9700607
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9700607%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 December 2019
A Di Stefano
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9700607
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9700607%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 December 2019
V Peri
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9700607
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9700607%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 December 2019
U Caruso
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9700607
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9700607%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 December 2019
R Cerone
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9700607
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9700607%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 December 2019
C Bellini
series ordinal
8
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9700607
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9700607%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 December 2019
publication date
1 June 1998
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9700607
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9700607%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 December 2019
published in
Journal of Inherited Metabolic Disease
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9700607
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9700607%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 December 2019
volume
21
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9700607
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9700607%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 December 2019
issue
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9700607
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9700607%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 December 2019
page(s)
435-436
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9700607
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9700607%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 December 2019
cites work
Variability of clinical presentation in fumarate hydratase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1023%2FA%3A1005379330187
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1023%2FA%3A1005379330187
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Congenital fumarase deficiency presenting with hypotonia and areflexia.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1023%2FA%3A1005379330187
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1023/A:1005379330187
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9700607
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9700607%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 December 2019
Dimensions Publication ID
1027884346
0 references
PubMed publication ID
9700607
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9700607
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9700607%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 December 2019
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