Newborn screening of primary carnitine deficiency: clinical and molecular genetic characteristics

被引：0
|
作者：
Haili Hu [1 ]
Qingqing Ma [2 ]
Yan Wang [3 ]
Wangsheng Song [3 ]
Hongyu Xu [3 ]
机构：
[1] Anhui Women and Children’s Medical Center,Maternal and Child Medical Center
[2] Anhui Medical University,undefined
[3] Hefei Women and Children Health Center,undefined
来源：
Italian Journal of Pediatrics | / 51卷 / 1期
关键词：
Primary carnitine deficiency; Newborn screening; Tandem mass spectrometry; gene mutation;
D O I：
10.1186/s13052-025-01911-1
中图分类号：
学科分类号：
摘要：
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