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Urea cycle disorders
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
ASL
ARG1
OTC
NAGS
CPS1
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
arginine metabolic process
nitrogen cycle metabolic process
REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES
MODULE_440
HSIAO_LIVER_SPECIFIC_GENES
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Curated Studies
Most Correlated Studies
OMIM - Hyperammonemia
OMIM - Metabolic disease
OMIM - Disorder of amino acid metabolism
Mouse Phenotypes - Autosomal recessive hereditary disorder
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Literature
Most Relevant Literature
Assessment of plasma ammonia and glutamine concentrations in urea cycle disorders.
Long-term outcome and intervention of urea cycle disorders in Japan.
Dietary management of urea cycle disorders: UK practice.
Ammonia control in children ages 2 months through 5 years with urea cycle disorders: comparison of s…
Coma, hyperammonemia, metabolic acidosis, and mutation: lessons learned in the acute management of l…
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Clinical Trials
Most Relevant Clinical Trials
Longitudinal Study of Urea Cycle Disorders
Oxidative Stress, Inflammation and Acute Decompensation in Urea Cycle Disorders
Neuroimaging and Neuropsychological Outcomes in Urea Cycle Disorders
Hepatic Histopathology in Urea Cycle Disorders
Dose-Escalation Safety Study of HPN-100 to Treat Urea Cycle Disorders
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