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English
Diagnosis and treatment of 6-pyruvoyl-tetrahydropterin synthase deficiency
scientific article published on 01 September 2000
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10984672
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10984672%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
title
Diagnosis and treatment of 6-pyruvoyl-tetrahydropterin synthase deficiency
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10984672
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10984672%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
author name string
H Shintaku
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10984672
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10984672%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
M Asada
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10984672
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10984672%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
Y Sawada
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10984672
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10984672%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
publication date
1 September 2000
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10984672
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10984672%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
published in
Brain and Development
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10984672
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10984672%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
volume
22 Suppl 1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10984672
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10984672%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
page(s)
S118-21
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10984672
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10984672%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
cites work
International database of tetrahydrobiopterin deficiencies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900132-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
"Peripheral" tetrahydrobiopterin deficiency with hyperphenylalaninaemia due to incomplete 6-pyruvoyl tetrahydropterin synthase deficiency or heterozygosity.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900132-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Combined transient and peripheral defects in tetrahydrobiopterin synthesis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900132-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase. Unusual gene dosage effect in heterozygotes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900132-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Atypical cases of phenylketonuria
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900132-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Tetrahydrobiopterin deficiency: assay for 6-pyruvoyl-tetrahydropterin synthase activity in erythrocytes, and detection of patients and heterozygous carriers
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900132-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Neopterin and biopterin concentrations in cerebrospinal fluid in controls less than 1 year old.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900132-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S0387-7604(00)00132-7
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10984672
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10984672%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
PubMed publication ID
10984672
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10984672
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10984672%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
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