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… (More)

Topic mentions per year

Topic mentions per year

1954-2017
020406019542016

Papers overview

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2008
2008
Mutations in the phenylalanine hydroxylase (PAH) gene result in phenylketonuria (PKU). Tetrahydrobiopterin (BH(4))-responsive… (More)
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2004
2004
Purpose: Phenylketonuria (PKU) is an autosomal recessive disorder caused by mutations in the phenylalanine hydroxylase (PAH) gene… (More)
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Highly Cited
2004
Highly Cited
2004
Phenylketonuria patients harboring a subset of phenylalanine hydroxylase (PAH) mutations have recently shown normalization of… (More)
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2004
2004
We previously proposed a novel disease entity, tetrahydrobiopterin (BH4)-responsive phenylalanine hydroxylase (PAH) deficiency… (More)
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Highly Cited
1999
Highly Cited
1999
Serum phenylalanine concentrations decreased in 4 patients with hyperphenylalaninemia after loading with tetrahydrobiopterin… (More)
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Highly Cited
1998
Highly Cited
1998
Phenylketonuria (PKU) and mild hyperphenylalaninemia (MHP) are allelic disorders caused by mutations in the gene encoding… (More)
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1997
1997
Two genetic mouse models for human phenylketonuria have been characterized by DNA sequence analysis. For each, a distinct… (More)
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Highly Cited
1997
Highly Cited
1997
We analyzed correlations between mutant genotypes at the human phenylalanine hydroxylase locus (gene symbol PAH) and the… (More)
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1990
1990
Mutant mice exhibiting heritable hyperphenylalaninemia have been isolated after ethylnitrosourea mutagenesis of the germ line. We… (More)
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1983
1983
The human gene for the hepatic enzyme phenylalanine hydroxylase has been cloned and used to analyse the phenylalanine hydroxylase… (More)
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