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Clinical and genetic characteristics of 3 cases of holocarboxylase synthetase deficiency and literature review
Medical Journal of Chinese People′s Liberation Army   Vol. 50, Issue 8, Pages: 984-990(2025)
Clinical Research | 更新时间：2025-09-16

    • Clinical and genetic characteristics of 3 cases of holocarboxylase synthetase deficiency and literature review

    • “In the field of medicine, experts from Zhengzhou University Children's Hospital have summarized the clinical and genetic characteristics of children with total carboxylase synthase deficiency, providing a basis for diagnosis and treatment.”

    • DOI：10.11855/j.issn.0577-7402.1619.2025.0523    

      CLC： R725.8

    • Received：17 October 2024，

      Accepted：19 April 2025，

      Published Online：23 May 2025，

      Published：28 August 2025

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  • Zhang Li-Ming,Yang Wei,Zhang Ying-Xian,et al.Clinical and genetic characteristics of 3 cases of holocarboxylase synthetase deficiency and literature review[J].Medical Journal of Chinese People′s Liberation Army,2025,50(08):984-990. DOI： 10.11855/j.issn.0577-7402.1619.2025.0523.

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