Establishment and evaluation of a method for measuring ornithine transcarbamylase activity in micro blood of neonates

Establishment and evaluation of a method for measuring ornithine transcarbamylase activity in micro blood of neonates

Abstract Background Ornithine transcarbamylase deficiency exhibits a high degree of clinical heterogeneity, making its screening and classification challenging in some instances. In this study, we first established a simple and stable method for testing ornithine transcarbamylase activity using micr...

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Bibliographic Details
Main Authors:	Zhilei Zhang, Xin Wang, Jingjing Zhang, Xianwei Guan, Yanyun Wang, Dongyang Hong, Yahong Li, Peiying Yang, Yun Sun, Tao Jiang
Format:	Article
Language:	English
Published:	BMC 2025-01-01
Series:	Orphanet Journal of Rare Diseases
Subjects:	Ornithine transcarbamylase deficiency Ornithine transcarbamylase activity Newborns Micro blood Tandem mass spectrometry Citrulline
Online Access:	https://doi.org/10.1186/s13023-025-03529-2
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