Skip to search formSkip to main contentSkip to account menu

Hyperphenylalaninemia, Non-Phenylketonuric

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

Related topics

Related topics

3 relations
HyperphenylalaninaemiaPhenylketonuria IIPhenylketonurias

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
1996
Highly Cited
1996
Tetrahydrobiopterin and Biogenic Amine Metabolism in the hph‐1 Mouse
Abstract: hph‐1 mice, which have defective tetrahydrobiopterin biosynthesis due to decreased GTP cyclohydrolase I activity, have… 
1996
1996
Neurochemical Effects Following Peripheral Administration of Tetrahydropterin Derivatives to the hph‐1 Mouse
Abstract: The hph‐1 mouse, which displays tetrahydrobiopterin deficiency and impaired dopamine and serotonin turnover, has been… 
Review
1996
Review
1996
Tetrahydrobiopterin and inherited hyperphenylalaninemias.
Tetrahydrobiopterin deficiency, a variant of hyperphenylalaninemia, may be caused by deficiency of one of the following enzymes… 
1996
1996
Impairment of the nitric oxide/cyclic GMP pathway in cerebellar slices prepared from thehph-1 mouse
1994
1994
Validity of screening early collected newborn specimens for phenylketonuria using a fluorometric method
1992
1992
Screening for tetrahydrobiopterin deficiency in newborns using dried urine on filter paper
Tetrahydrobiopterin deficiency among newborns with hyperphenylalaninaemia must be rapidly diagnosed and distinguished from… 
1987
1987
“Peripheral” tetrahydrobiopterin deficiency with hyperphenylalaninaemia due to incomplete 6-pyruvoyl tetrahydropterin synthase deficiency or heterozygosity
Four patients in three families with “peripheral” tetrahydrobiopterin deficiency were investigated. They were characterized… 
1982
1982
Atypical phenylketonuria with defective biopterin metabolism. Monotherapy with tetrahydrobiopterin or sepiapterin, screening und study of biosynthesis in man
Administration of a single dose of tetrahydrobiopterin dihydrochloride, 10–20 mg/kg orally, to a patient with dihydrobiopterin… 
1980
1980
Early diagnosis of hyperphenylalaninemia due to tetrahydrobiopterin deficiency (malignant hyperphenylalaninemia).
1971
1971
Detection of phenylketonuric heterozygotes.
Estimation of plasma phenylalanine and tyrosine by an abridged (30 min) column chromatography procedure was assessed. Plasma… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)