血浆瓜氨酸浓度降低是MT⁃ATP6基因相关线粒体病新生儿疾病筛查生化标志：2例病例报道并文献复习
鄢慧明, 全颖, 周莹, 蒋罗, 张靓玉, 万正卿, 席惠
Decreased plasma citrulline is a biochemical marker in newborn screening for MT-ATP6-associated mitochondrial disease: two case reports and a literature review
Hui-Ming YAN, Ying QUAN, Ying ZHOU, Luo JIANG, Liang-Yu ZHANG, Zheng-Qing WAN, Hui XI
中国当代儿科杂志
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2026, (2): 250
-256
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DOI: 10.7499/j.issn.1008-8830.2505143
