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Molecular basis of dihydropteridine reductase deficiency
scientific article
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instance of
scholarly article
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review article
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stated in
Europe PubMed Central
title
Molecular basis of dihydropteridine reductase deficiency
(English)
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main subject
BH4-deficient hyperphenylalaninemia C
1 reference
based on heuristic
inferred from title
author name string
P M Smooker
series ordinal
1
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R G Cotton
series ordinal
2
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language of work or name
English
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publication date
1995
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published in
Human Mutation
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volume
5
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issue
4
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page(s)
279-84
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cites work
Atypical (mild) forms of dihydropteridine reductase deficiency: neurochemical evaluation and mutation detection
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380050402
retrieved
21 January 2018
Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380050402
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Human dihydropteridine reductase: characterisation of a cDNA clone and its use in analysis of patients with dihydropteridine reductase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380050402
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The use of restriction fragment length polymorphisms in prenatal diagnosis of dihydropteridine reductase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380050402
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380050402
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Human dihydropteridine reductase: a method for the measurement of activity in cultured cells, and its application to malignant hyperphenylalaninemia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380050402
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Prenatal determination of dihydropteridine reductase in a normal fetus at risk for malignant hyperphenylalaninemia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380050402
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Phenylketonuria due to a deficiency of dihydropteridine reductase
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380050402
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Structure and expression of human dihydropteridine reductase
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380050402
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Dried blood spot on filter paper as a source of mRNA
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380050402
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Prenatal diagnosis of DHPR deficiency by direct detection of mutation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380050402
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification and in vitro expression of mutations causing dihydropteridine reductase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380050402
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Dihydropteridine reductase activity in eluates from dried blood spots: automation of an assay for a national screening service
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380050402
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1002/HUMU.1380050402
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Fatcat ID
release_sevftnwg35hunlofis5nav2u54
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PubMed publication ID
7627180
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