(Q77075763)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9700593%20AND%20SRC:MED&resulttype=core&format=json

2 December 2019

title

Aberrant phenylalanine metabolism in phenylketonuria heterozygotes (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9700593%20AND%20SRC:MED&resulttype=core&format=json

2 December 2019

author name string

P Guldberg

1

1 reference

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2 December 2019

K F Henriksen

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9700593%20AND%20SRC:MED&resulttype=core&format=json

2 December 2019

H C Lou

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9700593%20AND%20SRC:MED&resulttype=core&format=json

2 December 2019

F Güttler

4

1 reference

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2 December 2019

publication date

1 June 1998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9700593%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

2 December 2019

published in

1 reference

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2 December 2019

volume

21

1 reference

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2 December 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9700593%20AND%20SRC:MED&resulttype=core&format=json

2 December 2019

page(s)

365-372

1 reference

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https://scigraph.springernature.com/pub.10.1023/a:1005398406988

2 December 2019

exact match

0 references

cites work

Phenylalanine hydroxylase gene mutations in the United States: report from the Maternal PKU Collaborative Study

1 reference

12 December 2020

Progress in the identification of the heterozygote in phenylketonuria

1 reference

12 December 2020

Different phenotypes for phenylalanine hydroxylase deficiency

1 reference

12 December 2020

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

12 December 2020

Mild hyperphenylalaninemia and heterozygosity of the phenylalanine hydroxylase gene

1 reference

12 December 2020

Molecular basis for nonphenylketonuria hyperphenylalaninemia

1 reference

12 December 2020

Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis.

1 reference

12 December 2020

Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood

1 reference

12 December 2020

Serum tyrosine within the first hour after an oral load of phenylalanine

1 reference

12 December 2020

Genetics of Phenylketonuria: Heterozygosity for phenylketonuria

1 reference

12 December 2020

Heterozygote detection in phenylketonuria

1 reference

12 December 2020

Detection of heterozygotes for phenylketonuria by constant intravenous infusion of L-phenylalanine

1 reference

12 December 2020

Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients.

1 reference

12 December 2020

Mutation analysis in families with discordant phenotypes of phenylalanine hydroxylase deficiency. Inheritance and expression of the hyperphenylalaninaemias

1 reference

12 December 2020

The influence of mutations of enzyme activity and phenylalanine tolerance in phenylalanine hydroxylase deficiency

1 reference

12 December 2020

Detection of heterozygotes for phenylketonuria

1 reference

12 December 2020

Phenylalanine Hydroxylase Activity in Liver Biopsies from Hyperphenylalaninemia Heterozygotes: Deviation from Proportionality with Gene Dosage

1 reference

12 December 2020

Severity of mutation in the phenylalanine hydroxylase gene influences phenylalanine metabolism in phenylketonuria and hyperphenylalaninaemia heterozygotes.

1 reference

12 December 2020

Detection of Heterozygotes for Phenylketonuria by Column Chromatography and Discriminatory Analysis

1 reference

12 December 2020

PAH Mutation Analysis Consortium Database: a database for disease-producing and other allelic variation at the human PAH locus

1 reference

12 December 2020

Heterozygote detection in phenylketonuria. Measurement of discriminatory ability and interpretation of the phenylalanine loading test by determination of the heterozygote likelihood ratio

1 reference

12 December 2020

Detection by Phenylalanine Tolerance Tests of Heterozygous Carriers of Phenylketonuria

1 reference

12 December 2020