(Q35266172)

7 August 2017

title

Effect of genotype on changes in intelligence quotient after dietary relaxation in phenylketonuria and hyperphenylalaninaemia (English)

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7 August 2017

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Greeves LG

1

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7 August 2017

Patterson CC

2

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7 August 2017

Carson DJ

3

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7 August 2017

Thom R

4

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7 August 2017

Wolfenden MC

5

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7 August 2017

Zschocke J

6

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7 August 2017

Graham CA

7

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7 August 2017

Nevin NC

8

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7 August 2017

Trimble ER

9

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7 August 2017

language of work or name

English

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publication date

1 March 2000

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Archives of Disease in Childhood

7 August 2017

published in

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7 August 2017

volume

82

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7 August 2017

issue

3

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7 August 2017

page(s)

216-221

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The relationship of genotype to phenotype in phenylalanine hydroxylase deficiency

7 August 2017

cites work

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718236

Austrian report on longitudinal outcome in phenylketonuria

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718236

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718236

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718236

Comparison of genotype and intellectual phenotype in untreated PKU patients

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718236

Long-term follow-up of children with classical phenylketonuria after diet discontinuation: a review

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718236

Mutations in the phenylalanine hydroxylase gene: genetic determinants for the phenotypic variability of hyperphenylalaninemia.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718236

Diet termination in children with phenylketonuria: a review of psychological assessments used to determine outcome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718236

Loss of intellectual function in children with phenylketonuria after relaxation of dietary phenylalanine restriction.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718236

Predictors of intelligence quotient and intelligence quotient change in persons treated for phenylketonuria early in life.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718236

A long-term increase in the fluid intelligence of English children.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718236

Intelligence and quality of dietary treatment in phenylketonuria

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718236

Effect on intelligence of relaxing the low phenylalanine diet in phenylketonuria

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718236

Molecular basis of phenotypic heterogeneity in phenylketonuria

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718236

Compound heterozygosity in nonphenylketonuria hyperphenylalanemia: the contribution of mutations for classical phenylketonuria

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718236

Effect of stopping low-phenylalanine diet on intellectual progress of children with phenylketonuria

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718236

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718236

Long-term follow-up of patients treated for phenylketonuria (PKU). Results from the Prague PKU Center.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718236

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718236

Phenylketonuria mutation analysis in Northern Ireland: a rapid stepwise approach.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718236

PKU in adolescents: rationale and psychosocial factors in diet continuation.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718236

Automated sequencing detects all mutations in Northern Irish patients with phenylketonuria and mild hyperphenylalaninaemia

26 September 2018

1 reference

12 December 2020

Diet discontinuation policies and practices of PKU clinics in the United States

1 reference

12 December 2020

Effect of age at loss of dietary control on intellectual performance and behavior of children with phenylketonuria

1 reference

12 December 2020

Discontinuing the PKU diet

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

The effects of diet discontinuation in children with phenylketonuria

1 reference

12 December 2020

Continuation vs discontinuation of low-phenylalanine diet in PKU adolescents

1 reference

12 December 2020

Intellectual and school performances in early-treated classical PKU patients. The French collaborative study

1 reference

12 December 2020

Intellectual development in 12-year-old children treated for phenylketonuria

1 reference

12 December 2020

Rising IQ scores in British children: recent evidence

1 reference

12 December 2020

Relation between genotype and phenotype in Swedish phenylketonuria and hyperphenylalaninemia patients

1 reference

12 December 2020

Outcome of treatment in young adults with phenylketonuria detected by routine neonatal screening between 1964 and 1971

1 reference

12 December 2020

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

1 reference

12 December 2020

Summary of findings from the United States Collaborative Study of children treated for phenylketonuria

1 reference

12 December 2020

Intellectual development of the patients of the German Collaborative Study of children treated for phenylketonuria

1 reference

12 December 2020

Long-term follow up of patients with classical phenylketonuria after diet relaxation at 5 years of age. The Paris Study

1 reference

12 December 2020

Longitudinal study on early diagnosis and treatment of phenylketonuria in Poland

1 reference

12 December 2020

Intellectual and school performance in adolescents with phenylketonuria according to their dietary compliance

1 reference

12 December 2020

Intelligence and professional career in young adults treated early for phenylketonuria

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

Identifiers

DOI

10.1136/ADC.82.3.216

1 reference

7 August 2017

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7 August 2017

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