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Article

Environmentally determined genetic expression: clinical correlates with molecular variants of carbamyl phosphate synthetase I.

Molecular genetics and metabolism - 1 Apr 2004

Summar Marshall L, Hall Lynn, Christman Brian, Barr Frederick, Smith Heidi, Kallianpur Asha, Brown Nancy, Yadav Meeta, Willis Alecia, Eeds Angela, Cermak Emma, Summar Samantha, Wilson Ann, Arvin Molly, Putnam Allison, Wills Melissa, Cunningham Gary

Abstract excerpt

Carbamyl phosphate synthetase I (CPSI) determines the rate-limiting entry of free ammonia into the urea cycle. Disruption of CPSI affects the liver's ability to remove waste nitrogen and produce arginine, citrulline, and urea. Arginine is the necessary precursor for the critical biomolecule, nitric oxide (NO). We have studied the classic model of CPSI deficiency, which results in severe hyperammonemia, and...

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Identifiers

PMID: 15050969
DOI: 10.1016/j.ymgme.2003.11.014

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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