(Q71583622)

English

Phenylalanine hydroxylase genotypes, predicted residual enzyme activity and phenotypic parameters of diagnosis and treatment of phenylketonuria

scientific article published on 01 July 1996

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8828601%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

Phenylalanine hydroxylase genotypes, predicted residual enzyme activity and phenotypic parameters of diagnosis and treatment of phenylketonuria (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8828601%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

author name string

P Burgard

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8828601%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

A Rupp

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8828601%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

D S Konecki

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8828601%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

F K Trefz

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8828601%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

H Schmidt

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8828601%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

U Lichter-Konecki

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8828601%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

publication date

1 July 1996

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8828601%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

European Journal of Pediatrics

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8828601%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

155 Suppl 1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8828601%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

S11-5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8828601%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

https://scigraph.springernature.com/pub.10.1007/pl00014222

0 references

Molecular basis of phenotypic heterogeneity in phenylketonuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/8828601

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/8828601

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Facilitation of hyperphenylalaninaemia phenotype assessment by genotype analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/8828601

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular characterization of PKU allele prevalent in southern Europe and Ireland

1 reference

https://pubmed.ncbi.nlm.nih.gov/8828601

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Aberrant splicing of phenylalanine hydroxylase mRNA: The major cause for phenylketonuria in parts of southern Europe

1 reference

https://pubmed.ncbi.nlm.nih.gov/8828601

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Study design and description of patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/8828601

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/8828601

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8828601

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Comparison of different indices of dietary control in phenylketonuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/8828601

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Relation between genotype and phenotype in Swedish phenylketonuria and hyperphenylalaninemia patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/8828601

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The phenylketonuria G272X haplotype 7 mutation in European populations

1 reference

https://pubmed.ncbi.nlm.nih.gov/8828601

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Relation between phenylalanine hydroxylase genotypes and phenotypic parameters of diagnosis and treatment of hyperphenylalaninaemic disorders. German Collaborative Study of PKU

1 reference

https://pubmed.ncbi.nlm.nih.gov/8828601

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genotype-phenotype correlations in phenylketonuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/8828601

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/PL00014222

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8828601%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8828601%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

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