[Newborn screening for primary carnitine deficiency and variant spectrum of SLC22A5 gene in Guangzhou].

导出 LinkOut

翻译打印收藏纠错

作者： Y L,Huang ^[1] ; C F,Tang ^[1] ; S C,Liu ^[1] ; H Y,Sheng ^[2] ; F,Tang ^[1] ; X,Jiang ^[1] ; R D,Zheng ^[2] ; H F,Mei ^[2] ; L,Liu ^[2]

作者单位： Guangzhou Newborn Screening Center, Guangzhou Women and Children's Medical Center, Guangzhou 510180, China. ^[1] Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou 510623, China. ^[2]

关键词 Newborn screening Primary carnitine deficiency SLC22A5 gene Variant

主题词心肌疾病(Cardiomyopathies);肉碱(Carnitine);儿童(Child);女(雌)性(Female);疾病遗传易感性(Genetic Predisposition to Disease);人类(Humans);高氨血症(Hyperammonemia);婴儿, 新生(Infant, Newborn);肌疾病(Muscular Diseases);新生儿筛查(Neonatal Screening);妊娠(Pregnancy);回顾性研究(Retrospective Studies);串联质谱法(Tandem Mass Spectrometry)

DOI 10.3760/cma.j.cn112140-20200323-00292

PMID 32521959

发布时间 2020-09-10

翻译满意度评价：

准确一般字义偏差语意偏离译文作用小提交

浏览0

Zhonghua er ke za zhi = Chinese journal of pediatrics

2020年58卷6期

476-481页

相似文献

中文期刊
外文期刊
学位论文
会议论文

检索历史清除

[Newborn screening for primary carnitine deficiency and variant spectrum of SLC22A5 gene in Guangzhou].

Zhonghua er ke za zhi = Chinese journal of pediatrics

相似文献

Zhonghua er ke za zhi = Chinese journal of pediatrics

相关期刊

参考文献：
指定格式：	NoteExpress EndNote RefWorks NoteFirst

检索历史 清除

[Newborn screening for primary carnitine deficiency and variant spectrum of SLC22A5 gene in Guangzhou].

Zhonghua er ke za zhi = Chinese journal of pediatrics

相似文献

Zhonghua er ke za zhi = Chinese journal of pediatrics

相关期刊

检索历史清除