Associated Papers
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
Pathogenic variants of ornithine transcarbamylase deficiency: Nation-wide study in Japan and literature review.
Kido J et al.
Frontiers in Genetics, 2022
Variants associated with urea cycle disorders in Japanese patients: Nationwide study and literature review.
Kido J et al.
American Journal of Medical Genetics. Part A, 2021
Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency.
Lu D et al.
Orphanet Journal of Rare Diseases, 2020
[Clinical characteristics and analysis of mass spectrometric data in patients with ornithine transcarbamylase deficiency].
Han F et al.
Zhonghua Yi Xue Za Zhi, 2014
[Comparison and clinical application of two methods for determination of plasma chitotriosidase activity].
Wang Y et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2012
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