(Q72655858)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7901023%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

title

Biochemical control, genetic analysis and magnetic resonance imaging in patients with phenylketonuria (English)

1 reference

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28 October 2019

author name string

J H Walter

1

1 reference

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28 October 2019

L A Tyfield

2

1 reference

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28 October 2019

J B Holton

3

1 reference

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28 October 2019

C Johnson

4

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28 October 2019

publication date

1 October 1993

1 reference

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European Journal of Pediatrics

28 October 2019

published in

1 reference

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28 October 2019

volume

152

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28 October 2019

issue

10

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28 October 2019

page(s)

822-827

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https://scigraph.springernature.com/pub.10.1007/bf02073379

28 October 2019

exact match

0 references

cites work

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

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

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

The effects of diet discontinuation in children with phenylketonuria

1 reference

12 December 2020

Rapid classification of phenylketonuria genotypes by analysis of heteroduplexes generated by PCR-amplifiable synthetic DNA.

1 reference

12 December 2020

Molecular basis of phenotypic heterogeneity in phenylketonuria

1 reference

12 December 2020

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

1 reference

12 December 2020

A prevalent missense mutation in Northern Europe associated with hyperphenylalaninaemia

1 reference

12 December 2020

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

1 reference

12 December 2020

Neurotransmitter defects and treatment of disorders of hyperphenylalaninemia

1 reference

12 December 2020

An assessment of an automated fluorimetric blood phenylalanine technique for phenylketonuria screening and for accurate estimations

1 reference

12 December 2020

Inhibition by L-phenylalanine of tryptophan transport by synaptosomal plasma membrane vesicles: implications in the pathogenesis of phenylketonuria.

1 reference

12 December 2020

Neurological deterioration in adult phenylketonuria

1 reference

12 December 2020

Molecular basis and population genetics of phenylketonuria

1 reference

12 December 2020

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

1 reference

12 December 2020

Effect on intelligence of relaxing the low phenylalanine diet in phenylketonuria

1 reference

12 December 2020

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

1 reference

12 December 2020

Phenylalanine as Inhibitor of Transport of Amino-Acids in Brain

1 reference

12 December 2020

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

1 reference

12 December 2020

Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria

1 reference

12 December 2020

Aberrant splicing of phenylalanine hydroxylase mRNA: The major cause for phenylketonuria in parts of southern Europe

1 reference

12 December 2020

Magnetic resonance imaging changes in early treated patients with phenylketonuria

1 reference

12 December 2020

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

1 reference

12 December 2020

An occipito-temporal syndrome in adolescents with optimally controlled hyperphenylalaninaemia

1 reference

12 December 2020

An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2.

1 reference

12 December 2020

Relation between genotype and phenotype in Swedish phenylketonuria and hyperphenylalaninemia patients

1 reference

12 December 2020

CpG dinucleotides are mutation hot spots in phenylketonuria

1 reference

12 December 2020

The effects of high phenylalanine concentrations on serotinin and catecholamine metabolism in the human brain

1 reference

12 December 2020

Novel PKU mutation on haplotype 2 in French-Canadians

1 reference

12 December 2020

Impaired permeability of the blood-cerebrospinal fluid barrier in hyperphenylalaninaemia.

1 reference

12 December 2020

Disturbed myelination in patients with treated hyperphenylalaninaemia: evaluation with magnetic resonance imaging

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF02073379

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7901023%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

1 reference