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Article

Molecular genetic research into carbamoyl-phosphate synthase I: molecular defects and linkage markers.

Journal of inherited metabolic disease - 1 Jan 1998

Summar M L

Abstract excerpt

Deficiency of the hepatic enzyme carbamoyl-phosphate synthase I (CPSI), results in lethal or near-lethal hyperammonaemia. As part of our work on CPSI deficiency we have explored the development of markers for prenatal diagnosis, and the determination of molecular defects resulting in CPSI deficie...

Topics

Amino Acid Metabolism, Inborn Errors
Ammonia
Carbamoyl-Phosphate Synthase (Ammonia)
Genetic Linkage
Genetic Markers
Humans
Infant, Newborn
Mutation
Prenatal Diagnosis
Urea

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 9686343
DOI: 10.1023/a:1005349306311

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9686343-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Molecular genetic research into carbamoyl-phosphate synthase I: molecular defects and linkage markers.PMID 9686343Read ↗

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Mice deficient in the urea-cycle enzyme, carbamoyl phosphate synthetase I, die during the early neonatal period from hyperammonemia.Semantic proximity Read ↗

Assessing the functional characteristics of synonymous and nonsynonymous mutation candidates by use of large DNA constructs.Semantic proximity Read ↗

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Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort.Semantic proximity Read ↗

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