(Q24676821)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2116088%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

title

Insertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2116088%20AND%20SRC:MED&resulttype=core&format=json

BH4-deficient hyperphenylalaninemia C

23 September 2019

main subject

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2116088%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

author name string

Forrest SM

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2116088%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

Dahl HH

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2116088%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

Cotton RG

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2116088%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

language of work or name

English

0 references

publication date

1 August 1990

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2116088%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

23 September 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2116088%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

volume

47

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2116088%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2116088%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

page(s)

279-285

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2116088%20AND%20SRC:MED&resulttype=core&format=json

Structure and expression of human dihydropteridine reductase

23 September 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683733

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683733

Structural studies and isolation of cDNA clones providing the complete sequence of rat liver dihydropteridine reductase

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683733

A new cofactor required for the enzymatic conversion of phenylalanine to tyrosine

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683733

Dihydropteridine reductase (DHPR), its cofactors, and its mode of action

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683733

Pteridines and mono-amines: relevance to neurological damage

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683733

Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683733

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683733

Chemical reactivity of matched cytosine and thymine bases near mismatched and unmatched bases in a heteroduplex between DNA strands with multiple differences

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683733

Heterogeneity of the molecular defect in human dihydropteridine reductase deficiency

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683733

ELUCIDATION OF THE RATE-LIMITING STEP IN NOREPINEPHRINE BIOSYNTHESIS IN THE PERFUSED GUINEA-PIG HEART

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683733

Studies in histochemistry. LXXIX. Properties of tryptophan hydroxylase from neoplastic murine mast cells

28 November 2018

1 reference

12 December 2020

Dihydropteridine reductase deficiency diagnosis by assays on peripheral blood cells

1 reference

12 December 2020

Structure of dihydrofolate reductase: primary sequence of the bovine liver enzyme

1 reference

12 December 2020

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

1 reference

12 December 2020

Detection and localization of base changes in RNA using a chemical cleavage method

1 reference

12 December 2020

The isolation and characterization of dihydropteridine reductase from sheep liver

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2116088%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

PubMed publication ID

2116088

1 reference