(Q41889461)

13 October 2017

0 references

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

1 reference

13 October 2017

hyperphenylalaninemia

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1 reference

6

Scriver CR

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13 October 2017

Kayaalp E

1

1 reference

13 October 2017

Treacy E

2

1 reference

13 October 2017

Waters PJ

3

1 reference

13 October 2017

Byck S

4

1 reference

13 October 2017

Nowacki P

5

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13 October 2017

language of work or name

English

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publication date

1 December 1997

1 reference

American Journal of Human Genetics

13 October 2017

1 reference

13 October 2017

61

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13 October 2017

1309-1317

1 reference

13 October 2017

6

1 reference

Studies on phenylketonuria. I. Restricted phenylalanine intake in phenylketonuria

13 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716084

Treatment of phenylketonuria with a diet low in phenylalanine.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716084

Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716084

In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716084

The PAH mutation analysis consortium database: update 1996.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716084

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716084

Mutation nomenclature: nicknames, systematic names, and unique identifiers

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716084

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716084

Is there a paradigm shift in genetics? Lessons from the study of human diseases.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716084

Discordant phenylketonuria phenotypes in one family: the relationship between genotype and clinical outcome is a function of multiple effects

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716084

Phenylketonuria: variable phenotypic outcomes of the R261Q mutation and maternal PKU in the offspring of a healthy homozygote

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716084

Expression of rat liver phenylalanine hydroxylase in insect cells and site-directed mutagenesis of putative non-heme iron-binding sites.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716084

Comparison of genotype and intellectual phenotype in untreated PKU patients

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716084

A missense mutation, S349P, completely inactivates phenylalanine hydroxylase in north African Jews with phenylketonuria

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716084

Delineation of the catalytic core of phenylalanine hydroxylase and identification of glutamate 286 as a critical residue for pterin function

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716084

Further studies of the role of Ser-16 in the regulation of the activity of phenylalanine hydroxylase

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716084

Expression analysis of mutation P244L, which causes mild hyperphenylalaninemia

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716084

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716084

The molecular basis of dominance.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716084

Normal plasma free amino acid values in adults: the influence of some common physiological variables.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716084

Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716084

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716084

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716084

Quantification of the importance of individual steps in the control of aromatic amino acid metabolism

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716084

Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716084

Different clinical manifestations of hyperphenylalaninemia in three siblings with identical phenylalanine hydroxylase genes

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716084

Phenylketonuria--genotypes and phenotypes

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716084

Molecular basis of phenotypic heterogeneity in phenylketonuria

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716084

Missense mutations associated with RFLP haplotypes 1 and 4 of the human phenylalanine hydroxylase gene.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716084

Heterogeneity of mutations in Bulgarian phenylketonuria haplotype 1 and 4 alleles

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716084

Structural characterization of the 5' regions of the human phenylalanine hydroxylase gene

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716084

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716084

The influence of phenylalanine intake on the chemistry and behaviour of a phenyl-ketonuric child.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716084

In vivo disposal of phenylalanine in phenylketonuria: a study of two siblings

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716084

Genotype-phenotype correlations in phenylketonuria.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716084

Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716084

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716084

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716084

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

18 August 2018

1 reference

12 December 2020

Phenylketonuria in southern Poland: a new splice mutation in intron 9 at the PAH locus

1 reference

12 December 2020

Characterization of phenylketonuria alleles in the Italian population

1 reference

12 December 2020

Phenylketonuria missense mutations in the Mediterranean

1 reference

12 December 2020

Novel missense mutation in the phenylalanine hydroxylase gene leading to complete loss of enzymatic activity

1 reference

12 December 2020

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

1 reference

12 December 2020

Different phenotypic manifestations associated with identical phenylketonuria genotypes in two Spanish families

1 reference

12 December 2020

Five novel missense mutations of the phenylalanine hydroxylase gene in phenylketonuria

1 reference

12 December 2020

Phenotype distribution in the Spanish phenylketonuria population and related genotypes

1 reference

12 December 2020

Analysis of phenylalanine hydroxylase genotypes and hyperphenylalaninemia phenotypes using L-[1-13C]phenylalanine oxidation rates in vivo: a pilot study

1 reference

12 December 2020

Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12

1 reference

12 December 2020

Phenylketonuria genotypes correlated to metabolic phenotype groups in Norway

1 reference

12 December 2020

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

1 reference

12 December 2020

Recurrent nonsense mutation in exon 7 of the phenylalanine hydroxylase gene

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

Relation between genotype and phenotype in Swedish phenylketonuria and hyperphenylalaninemia patients

1 reference

12 December 2020

Identification of Gln313 and Pro327 as residues critical for substrate inhibition in tyrosine hydroxylase

1 reference

12 December 2020

Phenylketonuria in Poland: 66% of PKU alleles are caused by three mutations

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1086/301638

1 reference

13 October 2017

1 reference

13 October 2017

1 reference