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Hyperphenylalaninemia, Non-Phenylketonuric

Known as: Deficiency, Tetrahydrobiopterin, Non Phenylketonuric Hyperphenylalaninemia, Tetrahydrobiopterin Deficiency 
 
National Institutes of Health

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Highly Cited
2012
Highly Cited
2012
It has been shown that endothelial NO synthase (eNOS) uncoupling occurs in hypertension and atherosclerosis. However, its causal… Expand
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Highly Cited
2011
Highly Cited
2011
Tetrahydrobiopterin (BH4) is a required cofactor for the synthesis of NO by endothelial nitric oxide synthase (eNOS), and… Expand
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Highly Cited
2008
Highly Cited
2008
Mutations in the phenylalanine hydroxylase (PAH) gene result in phenylketonuria (PKU). Tetrahydrobiopterin (BH(4))-responsive… Expand
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2008
2008
We describe the treatment, the clinical, and biochemical findings and the outcome of 26 patients with 6-pyruvoyl-tetrahydropterin… Expand
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Highly Cited
2008
Highly Cited
2008
Decreased cerebral blood flow (CBF) has been observed following the resuscitation from neonatal hypoxic-ischemic injury, but its… Expand
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Highly Cited
2007
Highly Cited
2007
BACKGROUND Tetrahydrobiopterin (BH4) deficiency is reported to uncouple the enzymatic activity of endothelial nitric oxide… Expand
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Highly Cited
2004
Highly Cited
2004
A novel therapeutic strategy for phenylketonuria (PKU) has been initiated in Japan. A total of 12 patients who met the criteria… Expand
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Highly Cited
2002
Highly Cited
2002
Tetrahydrobiopterin (BH(4))-responsive hyperphenylalaninemia (HPA) is a recently described variant of phenylalanine hydroxylase… Expand
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Highly Cited
2000
Highly Cited
2000
Endothelial cells (EC) from diabetic BioBreeding (BB) rats have an impaired ability to produce NO. This deficiency is not due to… Expand
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Highly Cited
1997
Highly Cited
1997
In hypercholesterolemia, impaired nitric oxide activity has been associated with increased nitric oxide degradation by oxygen… Expand
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