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Results 1 - 6 of 6 for Dihydropteridine reductase deficiency
  1. ... Yang N, Ponzone A, Armarego WL, Cotton RG. Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of ... M, Ferraris S, Dianzani I, de Sanctis L. Dihydropteridine reductase deficiency in man: from biology to treatment. Med Res ...
  2. ... non-phenylketonuric Non-phenylketonuric hyperphenylalaninemia Genetic Testing Registry: Dihydropteridine reductase deficiency Genetic Testing Registry: 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency ...
  3. Phenylketonuria (National Library of Medicine)  
    Phenylketonuria (PKU) is a type of amino acid metabolism disorder. It is inherited. If you have it, your body can't process phenylalanine (Phe). Phe is an amino acid, ...
  4. From the National Institutes of Health
  5. ... tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and ... synthase deficiency. J Inherit Metab Dis. 2006 Feb;29(1): ...
  6. ... phenylalanine in the blood, this form of tetrahydrobiopterin deficiency rarely causes significant ... carbinolamine-4a-dehydratase, and dihydropteridine reductase. Hum Mutat. 2006 Sep;27(9):870- ...