Authors

• Lili Liang (ORCID: https://orcid.org/0000-0002-7610-9825)
• Wen-juan Qiu (ORCID: https://orcid.org/0009-0007-7088-5974)
• Yuxin Deng
• Ting Chen (ORCID: https://orcid.org/0000-0003-4212-9841)
• Lili Hao (ORCID: https://orcid.org/0000-0002-9243-1910)
• Hui Zou (ORCID: https://orcid.org/0000-0001-9782-0475)
• Lianshu Han (ORCID: https://orcid.org/0000-0003-4209-5119)
• Si Ding
• Xuefan Gu (ORCID: https://orcid.org/0000-0002-8594-8911)
• Yufeng Wang (ORCID: https://orcid.org/0000-0002-1869-3875)
• Yijie Ding (ORCID: https://orcid.org/0000-0003-2911-7643)
• Huiwen Zhang (ORCID: https://orcid.org/0000-0002-8241-325X)
• Peng Xu (ORCID: https://orcid.org/0000-0002-5399-4227)
• Min Yang (ORCID: https://orcid.org/0000-0003-1406-0285)
• Yongxing Chen (ORCID: https://orcid.org/0000-0002-4131-137X)
• Shengnan Wu (ORCID: https://orcid.org/0000-0002-2245-2273)
• Chiju Yang (ORCID: https://orcid.org/0000-0002-4230-8973)
• Xia Zhan (ORCID: https://orcid.org/0000-0002-8317-9426)
• Xianting Jiao (ORCID: https://orcid.org/0009-0003-2801-3196)

Institutions

• Shanghai Jiao Tong University (CN)
• XinHua Hospital (CN)
• Jinan Maternity And Care Hospital (CN)
• Zhengzhou Children's Hospital (CN)
• Jingzhou Maternal and Child Health Hospital (CN)
• Heze Municipal Hospital (CN)
• Shandong Maternal and Child Health Hospital (CN)
• China Medical University (CN)

Publication Details

Journal

Orphanet Journal of Rare Diseases

Published

2025-08-21

DOI

https://doi.org/10.1186/s13023-025-03991-y

Primary Topic

Metabolism and Genetic Disorders

Type

article

Field-Weighted Citation Impact

0.00

Funders

• Shanghai Municipal Health Commission