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ornithine carbamoyltransferase deficiency
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
OTC
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
Ornithine/putrescine carbamoyltransferase
ammonia homeostasis
Aspartate/ornithine carbamoyltransferase
Aspartate/ornithine carbamoyltransferase, Asp/Orn-binding domain
Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding
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OMIM - Metabolic disease
OMIM - Congenital disorder
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Literature
Most Relevant Literature
Impact of enzyme activity assay on indication in liver transplantation for ornithine transcarbamylas…
Hepatocellular carcinoma in a research subject with ornithine transcarbamylase deficiency.
Hyperammonemia in a patient with late-onset ornithine carbamoyltransferase deficiency.
Preclinical evaluation of a clinical candidate AAV8 vector for ornithine transcarbamylase (OTC) defi…
Clinical and gene mutation analyses of three patients with ornithine carbamoyltransferase deficiency…
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Clinical Trials
Most Relevant Clinical Trials
Phase I Pilot Study of Liver-Directed Gene Therapy for Partial Ornithine Transcarbamylase Deficiency
Phase I Study of Adenoviral Vector Mediated Gene Transfer for Ornithine Transcarbamylase in Adults W…
Halting Ornithine Transcarbamylase Deficiency With Recombinant AAV in ChildrEn
Phase 1b Study to Assess Safety, Tolerability, and Pharmacokinetics of ARCT-810 in Stable Adult Subj…
Study to Characterize Rate of Ureagenesis in Patients With Ornithine Transcarbamylase (OTC) Deficien…
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