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The use of restriction fragment length polymorphisms in prenatal diagnosis of dihydropteridine reductase deficiency
scientific article
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Statements
instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMC publication ID
1015417
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2895188%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 October 2019
title
The use of restriction fragment length polymorphisms in prenatal diagnosis of dihydropteridine reductase deficiency
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
1015417
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2895188%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 October 2019
main subject
BH4-deficient hyperphenylalaninemia C
1 reference
based on heuristic
inferred from title
author name string
H H Dahl
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
1015417
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2895188%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 October 2019
S Wake
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMC publication ID
1015417
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2895188%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 October 2019
R G Cotton
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMC publication ID
1015417
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2895188%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 October 2019
D M Danks
series ordinal
4
1 reference
stated in
Europe PubMed Central
PMC publication ID
1015417
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2895188%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 October 2019
language of work or name
English
0 references
publication date
1 January 1988
1 reference
stated in
Europe PubMed Central
PMC publication ID
1015417
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2895188%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 October 2019
published in
Journal of Medical Genetics
1 reference
stated in
Europe PubMed Central
PMC publication ID
1015417
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2895188%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 October 2019
volume
25
1 reference
stated in
Europe PubMed Central
PMC publication ID
1015417
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2895188%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 October 2019
issue
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
1015417
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2895188%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 October 2019
page(s)
25-28
1 reference
stated in
Europe PubMed Central
PMC publication ID
1015417
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2895188%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 October 2019
cites work
Heterogeneity of the molecular defect in human dihydropteridine reductase deficiency
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=1015417
retrieved
21 June 2018
A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity
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=1015417
retrieved
21 June 2018
A small-scale five-hour procedure for isolating multiple samples of CsCl-purified DNA: application to isolations from mammalian, insect, higher plant, algal, yeast, and bacterial sources.
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=1015417
retrieved
21 June 2018
Clinical role of pteridine therapy in tetrahydrobiopterin deficiency
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=1015417
retrieved
21 June 2018
Tetrahydrobiopterin non-responsiveness in dihydropteridine reductase deficiency is associated with the presence of mutant protein
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=1015417
retrieved
21 June 2018
Human dihydropteridine reductase: characterisation of a cDNA clone and its use in analysis of patients with dihydropteridine reductase deficiency
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=1015417
retrieved
21 June 2018
Phenylketonuria due to a deficiency of dihydropteridine reductase
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=1015417
retrieved
21 June 2018
Malignant hyperphenylalaninaemia—Current status (June 1977)
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=1015417
retrieved
21 June 2018
Letter: Tetrahydrobiopterin treatment of variant form of phenylketonuria
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=1015417
retrieved
21 June 2018
Letter: L-dopa and 5-hydroxytryptophan therapy in phenylketonuria with normal phenylalanine-hydroxylase activity
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=1015417
retrieved
21 June 2018
New variant of phenylketonuria with progressive neurological illness unresponsive to phenylalanine restriction
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=1015417
retrieved
21 June 2018
Letter: A new molecular defect in phenylketonuria
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/2895188
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Prenatal determination of dihydropteridine reductase in a normal fetus at risk for malignant hyperphenylalaninemia
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/2895188
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Differential diagnosis of tetrahydrobiopterin deficiency
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/2895188
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1136/JMG.25.1.25
1 reference
stated in
Europe PubMed Central
PMC publication ID
1015417
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2895188%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 October 2019
PMC publication ID
1015417
1 reference
stated in
Europe PubMed Central
PMC publication ID
1015417
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2895188%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 October 2019
PubMed publication ID
2895188
1 reference
stated in
Europe PubMed Central
PMC publication ID
1015417
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2895188%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 October 2019
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