(Q69923047)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2900886%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

title

Phenylalanine hydroxylase expression in liver of a fetus with phenylketonuria (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2900886%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

author name string

F D Ledley

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2900886%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

R Koch

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2900886%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

K Jew

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2900886%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

A Beaudet

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2900886%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

W E O'Brien

5

1 reference

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6 October 2019

D P Bartos

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2900886%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

S L Woo

7

1 reference

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6 October 2019

language of work or name

English

0 references

publication date

1 September 1988

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2900886%20AND%20SRC:MED&resulttype=core&format=json

The Journal of Pediatrics

6 October 2019

published in

1 reference

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6 October 2019

volume

113

1 reference

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6 October 2019

issue

3

1 reference

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6 October 2019

page(s)

463-468

1 reference

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Phenylketonuria and other phenylalanine hydroxylation mutants in man.

6 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980629-2

Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980629-2

Prenatal diagnosis of classic phenylketonuria by DNA analysis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980629-2

In vivo residual activities of the phenylalanine hydroxylating system in phenylketonuria and variants

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980629-2

Hepatic phenylalanine hydroxylase activity in hyperphenylalaninaemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980629-2

Purification of inactive phenylalanine hydroxylase protein from liver in classical phenylketonuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980629-2

Studies on the molecular defect in phenylketonuria and hyperphenylalaninaemia using antibodies against phenylalanine hydroxylase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980629-2

Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980629-2

An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980629-2

Molecular analysis of the inheritance of phenylketonuria and mild hyperphenylalaninemia in families with both disorders

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980629-2

GT to AT transition at a splice donor site causes skipping of the preceding exon in phenylketonuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980629-2

Phenylalanine hydroxylase deficiency caused by a single base substitution in an exon of the human phenylalanine hydroxylase gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980629-2

Polymorphic DNA haplotypes at the phenylalanine hydroxylase locus in prenatal diagnosis of phenylketonuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980629-2

Gene transfer and expression of human phenylalanine hydroxylase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980629-2

Phenylalanine Hydoxylase in Human Liver during Development

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980629-2

Distribution of phenylalanine hydroxylase (EC 1.14.3.1) in liver and kidney of vertebrates

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980629-2

Development of urea-synthesizing enzymes in human liver

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980629-2

A study of urea-synthesizing enzymes in prenatal and postnatal human liver

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980629-2

Correlation between polymorphic DNA haplotypes at phenylalanine hydroxylase locus and clinical phenotypes of phenylketonuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980629-2

10.1016/S0022-3476(88)80629-2

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2900886%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

1 reference