(Q34386181)

English

A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype

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scholarly article

1 reference

Europe PubMed Central

1 August 2017

A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype (English)

1 reference

Europe PubMed Central

1 August 2017

multicenter clinical trial

0 references

1 reference

based on heuristic

inferred from title

Valentino Romano

4

1 reference

Europe PubMed Central

1 August 2017

Cataldo Scavuzzo

1 reference

ORCID Public Data File 2021

author name string

P Guldberg

1

1 reference

Europe PubMed Central

1 August 2017

F Rey

2

1 reference

Europe PubMed Central

1 August 2017

J Zschocke

3

1 reference

Europe PubMed Central

1 August 2017

B François

5

1 reference

Europe PubMed Central

1 August 2017

L Michiels

6

1 reference

Europe PubMed Central

1 August 2017

K Ullrich

7

1 reference

Europe PubMed Central

1 August 2017

G F Hoffmann

8

1 reference

Europe PubMed Central

1 August 2017

P Burgard

9

1 reference

Europe PubMed Central

1 August 2017

H Schmidt

10

1 reference

Europe PubMed Central

1 August 2017

C Meli

11

1 reference

Europe PubMed Central

1 August 2017

E Riva

12

1 reference

Europe PubMed Central

1 August 2017

I Dianzani

13

1 reference

Europe PubMed Central

1 August 2017

A Ponzone

14

1 reference

Europe PubMed Central

1 August 2017

J Rey

15

1 reference

Europe PubMed Central

1 August 2017

F Güttler

16

1 reference

Europe PubMed Central

1 August 2017

language of work or name

0 references

publication date

1 July 1998

1 reference

Europe PubMed Central

1 August 2017

American Journal of Human Genetics

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Europe PubMed Central

1 August 2017

63

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Europe PubMed Central

1 August 2017

71-79

1 reference

Europe PubMed Central

1 August 2017

1

1 reference

Europe PubMed Central

1 August 2017

Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations

1 reference

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6 July 2018

PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377241

6 July 2018

Methods for detection of point mutations: performance and quality assessment. IFCC Scientific Division, Committee on Molecular Biology Techniques.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377241

6 July 2018

Three prevalent mutations in a patient with phenylalanine hydroxylase deficiency: implications for diagnosis and genetic counselling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377241

6 July 2018

PKU mutation G46S is associated with increased aggregation and degradation of the phenylalanine hydroxylase enzyme

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377241

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377241

6 July 2018

Molecular basis of non-PKU hyperphenylalaninaemia in Spain: prevalence of A403V, a mutation with high residual activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377241

6 July 2018

Molecular basis of phenylketonuria and a correlation between genotype and phenotype in a heterogeneous southeastern US population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377241

6 July 2018

Evidence in Latin America of recurrence of V388M, a phenylketonuria mutation with high in vitro residual activity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377241

6 July 2018

Structure and function of the aromatic amino acid hydroxylases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377241

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377241

6 July 2018

Molecular basis of phenotypic heterogeneity in phenylketonuria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377241

6 July 2018

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377241

6 July 2018

In vitro and in vivo correlations for I65T and M1V mutations at the phenylalanine hydroxylase locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377241

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377241

6 July 2018

Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377241

27 October 2018

Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377241

27 October 2018

In vivo assessment of mutations in the phenylalanine hydroxylase gene by phenylalanine loading: characterization of seven common mutations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377241

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377241

27 October 2018

How neutral are synonymous codon mutations?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377241

9 December 2018

Relation between genotype and phenotype in Swedish phenylketonuria and hyperphenylalaninemia patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/9634518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Non-phenylketonuria hyperphenylalaninaemia in Northern Ireland: frequent mutation allows screening and early diagnosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/9634518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9634518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A quality control study of CFTR mutation screening in 40 different European laboratories. The European Concerted Action on Cystic Fibrosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/9634518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Double mutant alleles: are they rare?

1 reference

https://pubmed.ncbi.nlm.nih.gov/9634518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of phenylketonuria alleles in the Italian population

1 reference

https://pubmed.ncbi.nlm.nih.gov/9634518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

PAH deficiency in Italy: correlation of genotype with phenotype in the Sicilian population

1 reference

https://pubmed.ncbi.nlm.nih.gov/9634518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9634518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenylketonuria genotypes correlated to metabolic phenotype groups in Norway

1 reference

https://pubmed.ncbi.nlm.nih.gov/9634518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Relationship between mutation genotype and biochemical phenotype in a heterogeneous Spanish phenylketonuria population

1 reference

https://pubmed.ncbi.nlm.nih.gov/9634518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12

1 reference

https://pubmed.ncbi.nlm.nih.gov/9634518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9634518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

1 August 2017

1 reference

Europe PubMed Central

1 August 2017

1 reference

Europe PubMed Central

1 August 2017

ResearchGate publication ID

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