(Q72376160)

English

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

scientific article published on 01 January 1994

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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:7807954%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

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

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7807954%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

author name string

U Lichter-Konecki

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7807954%20AND%20SRC:MED&resulttype=core&format=json

26 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:7807954%20AND%20SRC:MED&resulttype=core&format=json

26 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:7807954%20AND%20SRC:MED&resulttype=core&format=json

26 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:7807954%20AND%20SRC:MED&resulttype=core&format=json

26 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:7807954%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

P Burgard

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7807954%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

publication date

1 January 1994

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7807954%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7807954%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

17

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7807954%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7807954%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

362-365

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7807954%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

Molecular basis of phenotypic heterogeneity in phenylketonuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/7807954

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/7807954

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/7807954

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/7807954

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/7807954

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/7807954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00711831

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7807954%20AND%20SRC:MED&resulttype=core&format=json

26 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:7807954%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

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