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Classical phenylketonuria

Known as: Phenylalanine Hydroxylase Deficiency Disease, Severe, Folling's Disease, Phenylketonuria I 
A genetic disorder caused by a mutation in the gene that encodes the enzyme phenylalanine hydroxylase, resulting in a severe form of phenylketonuria.
National Institutes of Health

Papers overview

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Review
2013
Review
2013
Phenylalanine hydroxylase deficiency, traditionally known as phenylketonuria, results in the accumulation of phenylalanine in the… 
Review
2011
Review
2011
Phenylalanine hydroxylase deficiency is an autosomal recessive disorder that results in intolerance to the dietary intake of the… 
Highly Cited
2011
Highly Cited
2011
Reduced miR-204 expression facilitates the excessive proliferation and apoptosis resistance of pulmonary artery smooth muscle… 
Highly Cited
2008
Highly Cited
2008
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine (Phe) metabolism resulting from deficiency of… 
Highly Cited
2006
Highly Cited
2006
Background— The cause of pulmonary arterial hypertension (PAH) was investigated in humans and fawn hooded rats (FHR), a… 
Highly Cited
1991
Highly Cited
1991
To begin to study the importance of dopamine for executive function abilities dependent on prefrontal cortex during early… 
Highly Cited
1983
Highly Cited
1983
The human gene for the hepatic enzyme phenylalanine hydroxylase has been cloned and used to analyse the phenylalanine hydroxylase…