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Article

Clinical characteristics and molecular genetic analysis of ten cases of ornithine carbamoyltransferase deficiency in southeastern China.

Italian journal of pediatrics - 11 Sept 2024

Yuan Gaopin, Liu Zhiyong, Chen Zhixu, Zhang Xiaohong, Zhang Weifeng, Chen Dongmei

Abstract excerpt

BACKGROUND: This study aimed to investigate the clinical and molecular genetic characteristics of ten children with ornithine carbamoyltransferase deficiency (OTCD) in southeastern China, as well as the correlation between the genotype and phenotype of OTCD. METHODS: A retrospective analysis was performed on the clinical manifestations, laboratory testing, and genetic test findings of ten children with OTCD...

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Identifiers

PMID: 39256843
DOI: 10.1186/s13052-024-01740-8
PMCID: PMC11389275

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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