Hyperphenylalaninemia, Non-Phenylketonuric

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

Topic mentions per year

Topic mentions per year

1966-2016
02419662016

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2012
2012
It has been shown that endothelial NO synthase (eNOS) uncoupling occurs in hypertension and atherosclerosis. However, its causal… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
2008
2008
We describe the treatment, the clinical, and biochemical findings and the outcome of 26 patients with 6-pyruvoyl-tetrahydropterin… (More)
Is this relevant?
2008
2008
BACKGROUND/AIMS Tetrahydrobiopterin is an essential cofactor for NOS enzymes to synthesize NO. It has been suggested that reduced… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
2007
Highly Cited
2007
BACKGROUND Tetrahydrobiopterin (BH4) deficiency is reported to uncouple the enzymatic activity of endothelial nitric oxide… (More)
Is this relevant?
Highly Cited
2002
Highly Cited
2002
Tetrahydrobiopterin (BH(4))-responsive hyperphenylalaninemia (HPA) is a recently described variant of phenylalanine hydroxylase… (More)
  • figure 1
  • table 1
  • figure 2
  • figure 3
  • figure 4
Is this relevant?
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… (More)
Is this relevant?
Highly Cited
1997
Highly Cited
1997
In hypercholesterolemia, impaired nitric oxide activity has been associated with increased nitric oxide degradation by oxygen… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
Is this relevant?
1996
1996
The hph-1 mouse which displays tetrahydrobiopterin deficiency and impaired dopamine and serotonin turnover, has been used to… (More)
Is this relevant?
1982
1982
Administration of a single dose of tetrahydrobiopterin dihydrochloride, 10–20 mg/kg orally, to a patient with dihydrobiopterin… (More)
  • figure 1
Is this relevant?