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QuickView for phenylalanine hydroxylase deficiency (phenotype)


Genetic Markers

Most Correlated Genes

Most Correlated SNPs

  1. PAH
  2. PTS
  3. GCH1
  4. QDPR
  1. No SNPs found
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Pathway Enrichment

Most Correlated Biogroups

  1. MODULE_78
  2. MODULE_235
  3. MODULE_40
  4. aromatic amino acid family metabolic process
  5. Phenylalanine-4-hydroxylase, tetrameric form
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Curated Studies

Most Correlated Studies

  1. OMIM - Congenital disorder
  2. Mouse Phenotypes - Autosomal recessive hereditary disorder
  3. OMIM - Disorder of amino acid metabolism
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Literature

Most Relevant Literature

  1. Phenylketonuria.
  2. Tyrosine supplementation for phenylketonuria.
  3. A New View of Bone Loss in Phenylketonuria.
  4. The management of phenylketonuria in adult patients in Italy: a survey of six specialist metabolic c…
  5. Plasma metabolomic profile changes in females with phenylketonuria following a camp intervention.
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Clinical Trials

Most Relevant Clinical Trials

  1. Biological Variation of Phenylalanine in Patients With Hyperphenylalaninemia
  2. Phenylalanine and Its Impact on Cognition
  3. Long-Term Tetrahydrobiopterin Treatment in PKU Patients of 0-18 Years - Study on Phenylalanine Toler…
  4. Study to Evaluate the Safety and Efficacy of Phenoptin™ in Subjects With Phenylketonuria Who Have El…
  5. BH4 Responsiveness in PAH Deficiency PKU Patients
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