关于新生儿疾病基因和生物标志物的联合查的专家共识

Xin-Wen Huang1, Ting Zhang1, Zhen-Zhen Hu1

  • 1Department of Genetics and Metabolism, Children's Hospital, National Clinical Research Center for Child Health, Zhejiang University School of Medicine, 3333 Binsheng Road, Binjiang District, Hangzhou 310052, China.

PubMed
概括

这一共识标准化了中国新生儿新生儿疾病综合查,整合了生物标志物和基因测试,以提高准确性和早期干预. 它优先考虑早期发病的可治疗遗传疾病,以获得更好的婴儿健康结果.