Enhancing newborn screening sensitivity and specificity for missed NICCD using selected amino acids and acylcarnitines

Enhancing newborn screening sensitivity and specificity for missed NICCD using selected amino acids and acylcarnitines

Abstract Purpose To enhance the detection rate of Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency (NICCD) through newborn screening (NBS), we analyzed the metabolic profiles of missed patients and proposed a more reliable method for early diagnosis. Methods In this retrospective study,...

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Bibliographic Details
Main Authors: Peiyao Wang, Lingwei Hu, Yuhe Chen, Duo Zhou, Shasha Zhu, Ting Zhang, Ziyan Cen, Qimin He, Benqing Wu, Xinwen Huang
Format: Article
Language:English
Published: BMC 2025-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
NICCD
Missed screening
Citrulline
Newborn screening
SLC25A13
Dried blood spots
Online Access:https://doi.org/10.1186/s13023-025-03532-7
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