(Q70566130)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8435608%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

review article

1 reference

title

Phenylketonuria due to phenylalanine hydroxylase deficiency: an unfolding story. Medical Research Council Working Party on Phenylketonuria (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8435608%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

language of work or name

English

0 references

publication date

1 January 1993

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8435608%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8435608%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

volume

306

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8435608%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

issue

6870

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8435608%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

page(s)

115-119

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8435608%20AND%20SRC:MED&resulttype=core&format=json

Maternal phenylketonuria and hyperphenylalaninemia. An international survey of the outcome of untreated and treated pregnancies

12 October 2019

cites work

1 reference

12 December 2020

Enzymatic control of phenylalanine intake in phenylketonuria

1 reference

12 December 2020

Preliminary report on the effects of diet discontinuation in PKU

1 reference

12 December 2020

The effects of chronic hyperphenylalaninaemia on mouse brain protein synthesis can be prevented by other amino acids

1 reference

12 December 2020

Turnover of the fast components of myelin and myelin proteins in experimental hyperphenylalaninaemia. Relevance to termination of dietary treatment in human phenylketonuria.

1 reference

12 December 2020

Early-treated phenylketonuria: neuropsychologic consequences.

1 reference

12 December 2020

Effects of untreated maternal phenylketonuria and hyperphenylalaninemia on the fetus

1 reference

12 December 2020

Paired comparisons between early treated PKU children and their matched sibling controls on intelligence and school achievement test results at eight years of age.

1 reference

12 December 2020

Intelligence and personality characteristics in adults with untreated atypical phenylketonuria and mild hyperphenylalaninemia

1 reference

12 December 2020

Biochemical and neuropsychological effects of elevated plasma phenylalanine in patients with treated phenylketonuria. A model for the study of phenylalanine and brain function in man

1 reference

12 December 2020

Neuropsychological deficits in early treated phenylketonuric children.

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

Psychoeducational findings among children treated for phenylketonuria.

1 reference

12 December 2020

Increased Vigilance and Dopamine Synthesis by Large Doses of Tyrosine or Phenylalanine Restriction in Phenylketonuria

1 reference

12 December 2020

Timing of strict diet in relation to fetal damage in maternal phenylketonuria. An international collaborative study by the MRC/DHSS Phenylketonuria Register

1 reference

12 December 2020

Behavior disturbance in 8-year-old children with early treated phenylketonuria

1 reference

12 December 2020

Molecular basis and population genetics of phenylketonuria

1 reference

12 December 2020

An evaluation of the possible neurotoxicity of metabolites of phenylalanine

1 reference

12 December 2020

Neurological deterioration in adult phenylketonuria

1 reference

12 December 2020

Valine, isoleucine, and leucine. A new treatment for phenylketonuria

1 reference

12 December 2020

Intelligence and quality of dietary treatment in phenylketonuria

1 reference

12 December 2020

Neurological deterioration in young adults with phenylketonuria

1 reference

12 December 2020

Fetal damage due to maternal phenylketonuria: effects of dietary treatment and maternal phenylalanine concentrations around the time of conception (an interim report from the UK Phenylketonuria Register).

1 reference

12 December 2020

The codon 408 mutation associated with haplotype 2 is predominant in Polish families with phenylketonuria

1 reference

12 December 2020

Neuropsychology of early-treated phenylketonuria: specific executive function deficits

1 reference

12 December 2020

Molecular basis of phenotypic heterogeneity in phenylketonuria

1 reference

12 December 2020

Magnetic resonance imaging changes in early treated patients with phenylketonuria

1 reference

12 December 2020

The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations

1 reference

12 December 2020

Review of neonatal screening programme for phenylketonuria

1 reference

12 December 2020

Neuropathology of phenylketonuria

1 reference

12 December 2020

The influence of high phenylalanine and tyrosine on the concentrations of essential amino acids in brain

1 reference

12 December 2020

Termination of dietary treatment in phenylketonuria

1 reference

12 December 2020

Intellectual assessment of 111 four-year-old children with phenylketonuria

1 reference

12 December 2020

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

1 reference

12 December 2020

Linguistic development of children with phenylketonuria and normal intelligence.

1 reference

12 December 2020

Identifiers

DOI

10.1136/BMJ.306.6870.115

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8435608%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8435608%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

1 reference