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Hyperammonemia
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
OTC
NAGS
CPS1
ALDH18A1
CA5A
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
nitrogen cycle metabolic process
arginine metabolic process
REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES
amino acid binding
carboxylic acid binding
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Curated Studies
Most Correlated Studies
Brains from 6wk old MECP2 knockout mice (Rett syndrome model) injected 2wk daily with valproic acid
OMIM - Hyperammonemia
OMIM - Intellectual disability
OMIM - Metabolic disease
Skin fibroblast cells from Rett syndrome patients with MECP2 mutation
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Literature
Most Relevant Literature
Drug-induced hyperammonaemia.
Glutamate Dehydrogenase as a Promising Target for Hyperinsulinism Hyperammonemia Syndrome Therapy.
A Case of Esophageal Cancer with Consciousness Disorder Due to Hyperammonemia during FP Treatment].
Hyperammonemia in acetaminophen toxicity.
Hyperammonemia After Lung Transplantation: Systematic Review and a Mini Case Series.
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Clinical Trials
Most Relevant Clinical Trials
Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia
N-Carbamylglutamate (Carbaglu) In The Treatment Of Hyperammonemia
Systemic Biomarkers of Brain Injury From Hyperammonemia
Vitamin E Supplementation in Hyperinsulinism/Hyperammonemia Syndrome
A Non-Interventional Post-Authorization Study of Carbaglu for the Treatment of Hyperammonemia Due to…
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