(Q33592373)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2895188%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

title

The use of restriction fragment length polymorphisms in prenatal diagnosis of dihydropteridine reductase deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2895188%20AND%20SRC:MED&resulttype=core&format=json

BH4-deficient hyperphenylalaninemia C

6 October 2019

main subject

1 reference

H H Dahl

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2895188%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

S Wake

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2895188%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

R G Cotton

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2895188%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

D M Danks

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2895188%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

language of work or name

English

0 references

publication date

1 January 1988

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2895188%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

6 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2895188%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

volume

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2895188%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

page(s)

25-28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2895188%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2895188%20AND%20SRC:MED&resulttype=core&format=json

Heterogeneity of the molecular defect in human dihydropteridine reductase deficiency

6 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015417

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015417

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.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015417

Clinical role of pteridine therapy in tetrahydrobiopterin deficiency.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015417

Tetrahydrobiopterin non-responsiveness in dihydropteridine reductase deficiency is associated with the presence of mutant protein

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015417

Human dihydropteridine reductase: characterisation of a cDNA clone and its use in analysis of patients with dihydropteridine reductase deficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015417

Phenylketonuria due to a deficiency of dihydropteridine reductase

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015417

Malignant hyperphenylalaninaemia—Current status (June 1977)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015417

Letter: Tetrahydrobiopterin treatment of variant form of phenylketonuria

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015417

Letter: L-dopa and 5-hydroxytryptophan therapy in phenylketonuria with normal phenylalanine-hydroxylase activity

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015417

New variant of phenylketonuria with progressive neurological illness unresponsive to phenylalanine restriction

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015417

Letter: A new molecular defect in phenylketonuria

21 June 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2895188

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Prenatal determination of dihydropteridine reductase in a normal fetus at risk for malignant hyperphenylalaninemia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2895188

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Differential diagnosis of tetrahydrobiopterin deficiency

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2895188

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.25.1.25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2895188%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2895188%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

1 reference