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English
Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene.
scientific article published in May 1998
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Statements
instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9654207
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9654207%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
title
Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9654207
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9654207%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
main subject
biotinidase deficiency
1 reference
based on heuristic
inferred from title
author
Ewa Pronicka
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9654207
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9654207%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
Jolanta Sykut-Cegielska
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9654207
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9654207%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
author name string
K L Swango
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9654207
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9654207%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
M Demirkol
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9654207
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9654207%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
G Hüner
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9654207
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9654207%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
A Schulze
series ordinal
6
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9654207
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9654207%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
E Mayatepek
series ordinal
7
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9654207
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9654207%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
B Wolf
series ordinal
8
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9654207
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9654207%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
publication date
1 May 1998
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9654207
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9654207%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
published in
Human Genetics
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9654207
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9654207%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
volume
102
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9654207
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9654207%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
issue
5
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9654207
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9654207%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
page(s)
571-575
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9654207
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9654207%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
exact match
https://scigraph.springernature.com/pub.10.1007/s004390050742
0 references
Identifiers
DOI
10.1007/S004390050742
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9654207
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9654207%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
Dimensions Publication ID
1037375297
0 references
PubMed publication ID
9654207
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9654207
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9654207%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
ResearchGate publication ID
13630998
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