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QuickView for argininosuccinic aciduria (phenotype)


Genetic Markers

Most Correlated Genes

Most Correlated SNPs

  1. ASL
  1. No SNPs found
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Pathway Enrichment

Most Correlated Biogroups

  1. Argininosuccinate lyase
  2. Argininosuccinate lyase, C-terminal
  3. Fumarate lyase, conserved site
  4. Fumarate lyase family
  5. Fumarate lyase, N-terminal
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Curated Studies

Most Correlated Studies

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

Most Relevant Literature

  1. Optimizing therapy for argininosuccinic aciduria.
  2. Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria.
  3. Epilepsy and argininosuccinic aciduria.
  4. A randomized controlled trial to evaluate the effects of high-dose versus low-dose of arginine thera…
  5. Experience with the treatment of argininosuccinic aciduria during pregnancy.
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Clinical Trials

Most Relevant Clinical Trials

  1. Nitric Oxide Supplementation in Argininosuccinic Aciduria
  2. Arginine and Buphenyl in Patients With Argininosuccinic Aciduria (ASA), a Urea Cycle Disorder
  3. Nitric Oxide Supplementation on Neurocognitive Functions in Patients With ASLD
  4. Phase II Study of Sodium Phenylbutyrate, Sodium Benzoate, Sodium Phenylacetate, and Dietary Interven…
  5. The NIH UNI Study: Urea Cycle Disorders, Nutrition and Immunity
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