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Results 1 - 6 of 6 for Dihydropteridine reductase deficiency
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  1. QDPR gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/qdpr - Genetics
  2. ClinicalTrials.gov: Phenylketonurias From the National Institutes of Health (National Institutes of Health)  
    Phenylketonuria/Clinical Trials ... Phenylketonuria ... National Institutes of Health ... From the National Institutes of Health
    https://clinicaltrials.gov/...lketonurias"&aggFilters=status:not rec - External Health Links
  3. Tetrahydrobiopterin deficiency 
    ... non-phenylketonuric Non-phenylketonuric hyperphenylalaninemia Genetic Testing Registry: Dihydropteridine reductase deficiency Genetic Testing Registry: 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency ...
    https://medlineplus.gov/.../condition/tetrahydrobiopterin-deficiency - Genetics
  4. 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, ...
    https://medlineplus.gov/phenylketonuria.html - Health Topics
  5. PTS gene 
    ... tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and ... synthase deficiency. J Inherit Metab Dis. 2006 Feb;29(1): ...
    https://medlineplus.gov/genetics/gene/pts - Genetics
  6. PCBD1 gene 
    ... 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- ...
    https://medlineplus.gov/genetics/gene/pcbd1 - Genetics