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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

Semantic Scholar uses AI to extract papers important to this topic.
2012
2012
Quinone-based, redox-active resorcin[4]arene cavitands.
Since the preparation of the first quinoxaline-bridged resorcin[4]arene cavitand by Cram and co-workers in 1982, numerous… 
Highly Cited
2009
Highly Cited
2009
DNA transfection of mammalian skeletal muscles using in vivo electroporation.
A growing interest in cell biology is to express transgenically modified forms of essential proteins (e.g. fluorescently tagged… 
Review
2007
Review
2007
Nitrogen-containing heterocyclic quinones: a class of potential selective antitumor agents.
The development of prodrugs that are enzymatically activated into anticancer agents is a promising perspective in cancer therapy… 
Highly Cited
2005
Highly Cited
2005
Mangiferin, a natural occurring glucosyl xanthone, increases susceptibility of rat liver mitochondria to calcium-induced permeability transition.
Review
1993
Review
1993
Smoking and leukemia: evaluation of a causal hypothesis.
1990
1990
Insertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiency.
The mutation in a patient with dihydropteridine reductase deficiency has been located and characterized. Polymerase chain… 
Highly Cited
1989
Highly Cited
1989
Role of disorder in the conduction mechanism in polyanilines.
We present the first theoretical calculations of the electronic structure of long (200 rings) linear chains of polyaniline… 
Highly Cited
1987
Highly Cited
1987
Folinic acid therapy in treatment of dihydropteridine reductase deficiency.
1985
1985
Differential diagnosis of tetrahydrobiopterin deficiency
Six hundred and seventy-three children (483 newborns and 190 older selected children) were screened for tetrahydrobiopterin (BH4… 
Review
1970
Review
1970
Children of mothers with phenylketonuria.
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