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Enhancing Newborn Screening Sensitivity and Specificity for Missed NICCD Using Selected Amino Acids and Acylcarnitines

Peiyao Wang,Lingwei Hu, Yuhe Chen,Duo Zhou, Shasha Zhu,Ting Zhang, Ziyan Cen, Qimin He,Benqing Wu,Xinwen Huang

Orphanet Journal of Rare Diseases（2025）

引用 0|浏览4
关键词
NICCD,Missed screening,Citrulline,Newborn screening,SLC25A13,Dried blood spots
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