(Q51597580)

English

Severity of mutation in the phenylalanine hydroxylase gene influences phenylalanine metabolism in phenylketonuria and hyperphenylalaninaemia heterozygotes.

scientific article published in January 1994

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scholarly article

1 reference

Europe PubMed Central

7 April 2018

http://europepmc.org/abstract/MED/7967476

Severity of mutation in the phenylalanine hydroxylase gene influences phenylalanine metabolism in phenylketonuria and hyperphenylalaninaemia heterozygotes. (English)

1 reference

Europe PubMed Central

7 April 2018

http://europepmc.org/abstract/MED/7967476

phenylketonuria

1 reference

based on heuristic

inferred from title

author name string

E Svensson

1

1 reference

Europe PubMed Central

7 April 2018

http://europepmc.org/abstract/MED/7967476

L Iselius

2

1 reference

Europe PubMed Central

7 April 2018

http://europepmc.org/abstract/MED/7967476

L Hagenfeldt

3

1 reference

Europe PubMed Central

7 April 2018

http://europepmc.org/abstract/MED/7967476

publication date

1 January 1994

1 reference

Europe PubMed Central

7 April 2018

http://europepmc.org/abstract/MED/7967476

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

7 April 2018

http://europepmc.org/abstract/MED/7967476

17

1 reference

Europe PubMed Central

7 April 2018

http://europepmc.org/abstract/MED/7967476

2

1 reference

Europe PubMed Central

7 April 2018

http://europepmc.org/abstract/MED/7967476

215-222

1 reference

Europe PubMed Central

7 April 2018

http://europepmc.org/abstract/MED/7967476

https://scigraph.springernature.com/pub.10.1007/bf00711621

0 references

Phenylketonuria missense mutations in the Mediterranean

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967476

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Missense mutations prevalent in Orientals with phenylketonuria: molecular characterization and clinical implications

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967476

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Progress in the identification of the heterozygote in phenylketonuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967476

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Polymorphic DNA haplotypes at the phenylalanine hydroxylase locus and their relation to phenotype in Swedish phenylketonuria families

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967476

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A twin study of amino acid concentrations in cerebrospinal fluid

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967476

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular basis of phenotypic heterogeneity in phenylketonuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967476

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Increased reliability for the determination of the carrier state in phenylketonuria.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967476

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heterogeneity in Genetic Control of Phenylalanine Metabolism in Man

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967476

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A prevalent missense mutation in Northern Europe associated with hyperphenylalaninaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967476

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The molecular basis of dominance.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967476

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967476

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The use of biochemical data in screening for mutant alleles and in genetic counselling

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967476

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular basis for nonphenylketonuria hyperphenylalaninemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967476

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A simple method for detection of heterozygous carriers of the gene for classic phenylketonuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967476

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Effects of oral contraceptives and obesity on carrier tests for phenylketonuria.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967476

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967476

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Amino acids in plasma and CSF and monoamine metabolites in CSF: interrelationship in healthy subjects

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967476

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967476

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967476

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Emergency care for acute poisoning with phosphororganic compounds.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967476

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenylalanine hydroxylase deficiency caused by a single base substitution in an exon of the human phenylalanine hydroxylase gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967476

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967476

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Relation between genotype and phenotype in Swedish phenylketonuria and hyperphenylalaninemia patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967476

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Normal plasma free amino acid values in adults: the influence of some common physiological variables.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967476

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A study of plasma free amino acid levels. II. Normal values for children and adults.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967476

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7967476

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00711621

1 reference

Europe PubMed Central

7 April 2018

http://europepmc.org/abstract/MED/7967476

1 reference

Europe PubMed Central

7 April 2018

http://europepmc.org/abstract/MED/7967476

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