Clinical, biochemical, and molecular genetic characteristics of patients with primary carnitine deficiency identified by newborn screening in Shanghai, China.

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作者： Siyu,Chang ^[1] ; Yi,Yang ^[1] ; Feng,Xu ^[1] ; Wenjun,Ji ^[1] ; Xia,Zhan ^[1] ; Xiaolan,Gao ^[1] ; Ting,Chen ^[1] ; Wenjuan,Qiu ^[1] ; Huiwen,Zhang ^[1] ; Lili,Liang ^[1] ; Deyun,Lu ^[1] ; Kaichuang,Zhang ^[1] ; Xuefan,Gu ^[1] ; Lianshu,Han ^[1]

作者单位： Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China. ^[1]

关键词 SLC22A5 free carnitine newborn screening primary carnitine deficiency tandem mass spectrometry

DOI 10.3389/fgene.2022.1062715

PMID 36568374

发布时间 2023-01-03

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Frontiers in genetics

2022年13卷

1062715页

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Clinical, biochemical, and molecular genetic characteristics of patients with primary carnitine deficiency identified by newborn screening in Shanghai, China.

Frontiers in genetics

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Frontiers in genetics

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Clinical, biochemical, and molecular genetic characteristics of patients with primary carnitine deficiency identified by newborn screening in Shanghai, China.

Frontiers in genetics

相似文献

Frontiers in genetics

相关期刊

检索历史清除