Hyperphenylalaninaemia

Known as: Hyperphenylalaninemia, hyperphenylalaninaemias 
An increased concentration of L-phenylalanine in the blood. [HPO:probinson]

Topic mentions per year

Topic mentions per year

1962-2018
0204019622018

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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Highly Cited
2002
Highly Cited
2002
BACKGROUND Hyperphenylalaninemia is a common inherited metabolic disease that is due to phenylalanine hydroxylase deficiency, and… (More)
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Highly Cited
2002
Highly Cited
2002
Tetrahydrobiopterin (BH(4))-responsive hyperphenylalaninemia (HPA) is a recently described variant of phenylalanine hydroxylase… (More)
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Highly Cited
2001
Highly Cited
2001
BACKGROUND Tandem mass spectrometry (MS/MS) is rapidly being adopted by newborn screening programs to screen dried blood spots… (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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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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Highly Cited
1993
Highly Cited
1993
Phenylketonuria (PKU) results from a deficiency in phenylalanine hydroxylase, the enzyme catalyzing the conversion of… (More)
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1992
1992
The study included 16 adolescents with optimally controlled hyperphenylalaninaemia (McKusick 26160), of whom six did not require… (More)
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1982
1982
Hyperphenylalaninaemia induced by daily injections of alpha-methylphenylalanine plus phenylalanine caused 20-40% decreases in… (More)
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