Associated Papers
Clinical and biochemical characteristics of patients with ornithine transcarbamylase deficiency and in silico analysis of OTC gene.
Zhang Y et al.
Orphanet Journal of Rare Diseases, 2025
40102887 (PubMed )
Supplement: 13023_2025_3624_MOESM2_ESM.docx
Preimplantation genetic testing for inborn errors of metabolism: observations from a reproductive genetic laboratory in China.
Li X et al.
Journal of Human Genetics, 2025
Clinical characteristics and molecular genetic analysis of ten cases of ornithine carbamoyltransferase deficiency in southeastern China.
Yuan G et al.
Italian Journal of Pediatrics, 2024
Clinical and genetic analysis of five Chinese patients with urea cycle disorders.
Zheng Z et al.
Molecular Genetics & Genomic Medicine, 2020
[Genetic testing and prenatal diagnosis in seven pedigrees affected with ornithine transcarbamylase deficiency].
Liu N et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2020
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