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Phenylketonuria II

Known as: Deficiency Disease, Dihydropteridine Reductase, HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO DHPR DEFICIENCY, DIHYDROPTERIDINE REDUCTASE DEFICIENCY 
National Institutes of Health

Related topics

Related topics

16 relations
Autosomal recessive inheritanceChoreoathetosisClassical phenylketonuriaDeglutition Disorders

Broader (1)

Phenylketonurias

Papers overview

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2009
2009
Full view of single-molecule force spectroscopy of polyaniline in oxidized, reduced, and doped states.
The macroscopic mechanical properties of polyaniline (PANI) lie mainly on two factors, the structure of molecular aggregations of… 
2006
2006
Two-photon photochemical generation of reactive enediyne.
p-Quinoid cyclopropenone-containing enediyne precursor (1) has been synthesized by monocyclopropanation of one of the triple… 
2002
2002
Reactivity of nitrovinylquinones with cyclic and acyclic enol ethers.
The nitrovinyl-substituted quinones 2-(2-nitrovinyl)-1,4-benzoquinone and 2-(2-nitrovinyl)-1,4-naphthoquinone react with a… 
1994
1994
Intelligence in mild atypical phenylketonuria
In 82 children with mild phenylketonuria (PKU) (blood phenylalanine (Phe) concentrations consistently below 900 μmol/l throughout… 
1993
1993
Identification and in vitro expression of mutations causing dihydropteridine reductase deficiency.
Six mutations resulting in the recessive inherited disorder dihydropteridine reductase deficiency are reported, five of which are… 
1992
1992
Phenoloxidase catalyzed coupling of catechols. Identification of novel coupling products.
1989
1989
Purification of GTP cyclohydrolase I from human liver and production of specific monoclonal antibodies.
GTP cyclohydrolase I, the first enzyme in the de novo biosynthesis of tetrahydrobiopterin, was enriched more than 13,000-fold… 
1984
1984
Dihydropteridine reductase deficiency: Non-response to oral tetrahydrobiopterin load test
In a child with dihydropteridine reductase deficiency (McKusick 26163) none of four separate oral tetrahydrobiopterin loading… 
1981
1981
Heterogeneity of the molecular defect in human dihydropteridine reductase deficiency.
Radioimmunoassay, immunoprecipitation, affinity chromatography and two-dimensional gel electrophoresis were used to test cultured… 
Highly Cited
1970
Highly Cited
1970
Clinical and biochemical observations of patients with atypical phenylketonuria.
Patients with hyperphenylalaninemia appear to represent a heterogeneous group. The enzyme phenylalanine hydroxylase may be… 
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