(Q41129187)

27 September 2017

1 reference

title

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

1 reference

27 September 2017

F Güttler

1

1 reference

PubMed ID

8828600

27 September 2017

P Guldberg

series ordinal

2

1 reference

27 September 2017

1 July 1996

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European Journal of Pediatrics

27 September 2017

1 reference

27 September 2017

155 Suppl 1

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27 September 2017

S6-10

1 reference

https://scigraph.springernature.com/pub.10.1007/pl00014253

27 September 2017

0 references

cites work

Molecular basis of phenotypic heterogeneity in phenylketonuria

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FPL00014253

Molecular biology of phenylketonuria

21 January 2018

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

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

1 reference

12 December 2020

Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with 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

'Broad-range' DGGE for single-step mutation scanning of entire genes: application to human phenylalanine hydroxylase gene

1 reference

12 December 2020

Heterogeneity in Genetic Control of Phenylalanine Metabolism in Man

1 reference

12 December 2020

PKU mutations R408Q and F299C in Norway: haplotype associations, geographic distributions and phenotype characteristics

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

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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

Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients.

1 reference

12 December 2020

Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene

1 reference

12 December 2020

Comparison of genotype and intellectual phenotype in untreated PKU patients

1 reference

12 December 2020

Silent mutations in the phenylalanine hydroxylase gene as an aid to the diagnosis of phenylketonuria

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

Fasting serum phenylalanine in untreated institutionalised patients with 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

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

1 reference

12 December 2020

Regional mapping of the phenylalanine hydroxylase gene and the phenylketonuria locus in the human genome

1 reference

12 December 2020

Identifiers

DOI

10.1007/PL00014253

1 reference

27 September 2017

1 reference

PubMed ID

8828600