(Q53874536)

21 May 2018

title

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

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21 May 2018

author name string

P Guldberg

1

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21 May 2018

I Mikkelsen

2

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21 May 2018

K F Henriksen

3

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21 May 2018

H C Lou

4

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21 May 2018

F Güttler

5

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21 May 2018

publication date

1 July 1995

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21 May 2018

European Journal of Pediatrics

published in

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21 May 2018

volume

154

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21 May 2018

page(s)

551-556

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21 May 2018

issue

7

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21 May 2018

Phenylalanine hydroxylase gene: Novel missense mutation in exon 7 causing severe phenylketonuria

cites work

1 reference

12 December 2020

Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenyl-alaninemia in Southern Europe

1 reference

12 December 2020

Kinetics of phenylalanine disappearance after intravenous load in phenylketonuria and its genetic variants

1 reference

12 December 2020

Different phenotypes for phenylalanine hydroxylase deficiency

1 reference

12 December 2020

Molecular basis of phenotypic heterogeneity in phenylketonuria

1 reference

12 December 2020

A prevalent missense mutation in Northern Europe associated with hyperphenylalaninaemia

1 reference

12 December 2020

Phenylalaninaemia. Differential diagnosis

1 reference

12 December 2020

In vivo residual activities of the phenylalanine hydroxylating system in phenylketonuria and variants

1 reference

12 December 2020

Molecular basis for nonphenylketonuria hyperphenylalaninemia

1 reference

12 December 2020

Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenylketonuria in their mothers homozygous for the phenylalanine hydroxylase Arg-261-Gln mutation

1 reference

12 December 2020

Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis.

1 reference

12 December 2020

Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12

1 reference

12 December 2020

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

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

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

1 reference

12 December 2020

Heterozygote detection in phenylketonuria

1 reference

12 December 2020

Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients.

1 reference

12 December 2020

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

1 reference

12 December 2020

Comparison of genotype and intellectual phenotype in untreated PKU patients

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

Studies on phenylpyruvic oligophrenia; the position of the metabolic error

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12 December 2020

Relation between genotype and phenotype in Swedish phenylketonuria and hyperphenylalaninemia patients

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12 December 2020

Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA

1 reference

12 December 2020

Detection of heterozygotes for phenylketonuria

1 reference

12 December 2020

Relation between phenylalanine hydroxylase genotypes and phenotypic parameters of diagnosis and treatment of hyperphenylalaninaemic disorders. German Collaborative Study of PKU

1 reference

12 December 2020

Genotype-phenotype correlations in phenylketonuria.

1 reference

12 December 2020

Detection of Heterozygotes for Phenylketonuria by Column Chromatography and Discriminatory Analysis

1 reference

12 December 2020

GT to AT transition at a splice donor site causes skipping of the preceding exon in phenylketonuria

1 reference

12 December 2020

Detection by Phenylalanine Tolerance Tests of Heterozygous Carriers of Phenylketonuria

1 reference

12 December 2020

Identifiers

DOI

10.1007/S004310050341

1 reference

21 May 2018

release_yjilgnwncndbzi4u3mji2osivq

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/yjilgnwncndbzi4u3mji2osivq

24 November 2022

mapped directly with Wikidata item

PubMed ID

7556322

1 reference

21 May 2018