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Phenylalanine Hydroxylase

Known as: Phenylalanine 4 Hydroxylase, 4-Hydroxylase, Phenylalanine, phenylalaninase 
An enzyme of the oxidoreductase class that catalyzes the formation of L-TYROSINE, dihydrobiopterin, and water from L-PHENYLALANINE… 
National Institutes of Health

Related topics

Related topics

15 relations
Classical phenylketonuriaIn BloodPAH genePhenylalanine hydroxylase Ab:ACnc:Pt:Ser:Qn

Narrower (1)

Hyperphenylalaninemia, Non-Pku Mild

Broader (1)

Oxygenases

Papers overview

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Highly Cited
2000
Highly Cited
2000
Crystal structure and site-specific mutagenesis of pterin-bound human phenylalanine hydroxylase.
The crystal structure of the dimeric catalytic domain (residues 118-424) of human PheOH (hPheOH), cocrystallized with the… 
Highly Cited
1999
Highly Cited
1999
Influence of Thermal Annealing on the Thermodynamic and Mass-Transfer Kinetic Properties of d- and l-Phenylalanine Anilide on Imprinted Polymeric Stationary Phases.
An investigation of the material, chromatographic, thermodynamic, and kinetic properties of thermally treated (i.e., annealed… 
Review
1998
Review
1998
In vitro expression analysis of mutations in phenylalanine hydroxylase: Linking genotype to phenotype and structure to function
Mutations in the human phenylalanine hydroxylase gene (PAH) altering the expressed cDNA nucleotide sequence (GenBank U49897) can… 
Highly Cited
1990
Highly Cited
1990
Missense mutations associated with RFLP haplotypes 1 and 4 of the human phenylalanine hydroxylase gene.
We report missense mutations associated with haplotype 1 and haplotype 4 alleles of the human phenylalanine hydroxylase (PAH… 
Highly Cited
1989
Highly Cited
1989
Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency.
We report the characterization of a mutation in the phenylalanine hydroxylase (PAH) gene associated with partial residual… 
Highly Cited
1989
Highly Cited
1989
Polymorphic DNA haplotypes at the phenylalanine hydroxylase (PAH) locus in European families with phenylketonuria (PKU).
DNA haplotype data from the phenylalanine hydroxylase (PAH) locus are available from a number of European populations as a result… 
Highly Cited
1988
Highly Cited
1988
Retroviral-mediated gene transfer and expression of human phenylalanine hydroxylase in primary mouse hepatocytes.
Genetic therapy for phenylketonuria (severe phenylalanine hydroxylase deficiency) may require introduction of a normal… 
Highly Cited
1985
Highly Cited
1985
Loss of intellectual function in children with phenylketonuria after relaxation of dietary phenylalanine restriction.
Highly Cited
1977
Highly Cited
1977
Atypical phenylketonuria with normal phenylalanine hydroxylase and dihydropteridine reductase activity in vitro.
A child with phenylketonuria had normal phenylalanine hydroxylase activity in vitro. In addition, all known components of the… 
Highly Cited
1972
Highly Cited
1972
The quantitative determination of phenylalanine hydroxylase in rat tissues. Its developmental formation in liver.
A sensitive method was developed for determining the phenylalanine hydroxylase activity of crude tissue preparations in the… 
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