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Hyperphenylalaninemia, Non-Phenylketonuric

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

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3 relations
HyperphenylalaninaemiaPhenylketonuria IIPhenylketonurias

Papers overview

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Highly Cited
2008
Highly Cited
2008
Ammine magnesium borohydride complex as a new material for hydrogen storage: structure and properties of Mg(BH4)2.2NH3.
The ammonia complex of magnesium borohydride Mg(BH4)2.2NH3 (I), which contains 16.0 wt % hydrogen, is a potentially promising… 
Highly Cited
2008
Highly Cited
2008
Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency.
Highly Cited
2007
Highly Cited
2007
Proteasome-Dependent Degradation of Guanosine 5-Triphosphate Cyclohydrolase I Causes Tetrahydrobiopterin Deficiency in Diabetes Mellitus
Background— Tetrahydrobiopterin (BH4) deficiency is reported to uncouple the enzymatic activity of endothelial nitric oxide… 
Highly Cited
2007
Highly Cited
2007
Structure and vibrational dynamics of isotopically labeled lithium borohydride using neutron diffraction and spectroscopy
Highly Cited
2004
Highly Cited
2004
Long-Term Treatment and Diagnosis of Tetrahydrobiopterin-Responsive Hyperphenylalaninemia with a Mutant Phenylalanine Hydroxylase Gene
A novel therapeutic strategy for phenylketonuria (PKU) has been initiated in Japan. A total of 12 patients who met the criteria… 
Highly Cited
2002
Highly Cited
2002
High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: a study of 1,919 patients observed from 1988 to 2002.
Highly Cited
2000
Highly Cited
2000
Impaired nitric oxide production in coronary endothelial cells of the spontaneously diabetic BB rat is due to tetrahydrobiopterin deficiency.
Endothelial cells (EC) from diabetic BioBreeding (BB) rats have an impaired ability to produce NO. This deficiency is not due to… 
Highly Cited
2000
Highly Cited
2000
Low-temperature optical absorption spectra suggest a redox role for tetrahydrobiopterin in both steps of nitric oxide synthase catalysis.
To investigate the role of tetrahydrobiopterin (BH4) in the catalytic mechanism of nitric oxide synthase (NOS), we analyzed the… 
Highly Cited
1999
Highly Cited
1999
Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia
Since 1998, the NSW Newborn Screening Program has used electrospray tandem mass spectrometry (MS/MS) to analyse samples from all… 
Highly Cited
1997
Highly Cited
1997
Tetrahydrobiopterin restores endothelial function in hypercholesterolemia.
In hypercholesterolemia, impaired nitric oxide activity has been associated with increased nitric oxide degradation by oxygen… 
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