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Results 1 - 10 of 13 for Hyperphenylalaninemia
  1. ... signs and symptoms of the condition. BH4 deficiency Hyperphenylalaninemia caused by a defect in biopterin metabolism Hyperphenylalaninemia, non-phenylketonuric Non-phenylketonuric hyperphenylalaninemia Genetic Testing Registry: ...
  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
  3. ... the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism. Am J Hum Genet. ... dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia. Hum Genet. 1998 Aug;103(2):162-7. ...
  4. ... condition, such as variant PKU or non-PKU hyperphenylalaninemia. More About This Health Condition L-Phenylalanine,tetrahydrobiopterin: ...
  5. ... N, Bonafe L, Thony B. Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and ...
  6. ... Chiang SH, Wu SJ, Hsiao KJ. Tetrahydrobiopterin-deficient hyperphenylalaninemia in the Chinese. Clin Chim Acta. 2001 Nov; ...
  7. The QDPR gene provides instructions for making an enzyme called quinoid dihydropteridine reductase. This enzyme helps carry out one step in the chemical ...
  8. 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, ...
  9. ... condition, sometimes called variant PKU and non-PKU hyperphenylalaninemia, have a smaller risk of brain damage. People ... condition, such as variant PKU or non-PKU hyperphenylalaninemia.Changes in other genes may influence the severity ...
  10. Learning about Phenylketonuria (PKU) From the National Institutes of Health (National Human Genome Research Institute)  
    Phenylketonuria/Genetics ... Phenylketonuria ... National Human Genome Research Institute ... From the National Institutes of Health ... Phenylketonuria is an inherited disorder ...
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