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Results 1 - 4 of 4 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. ... tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and ... synthase deficiency. J Inherit Metab Dis. 2006 Feb;29(1): ...
  4. ... 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- ...