罕见病新生儿筛查与患者登记现状研究进展

Status quo of newborn screening and patient registration for rare diseases

摘要: 新生儿筛查和患者登记系统是罕见病疾病管理的基础，本研究介绍国际新生儿筛查和罕见病患者登记现状，总结其特点，为进一步完善和促进中国罕见病疾病管理提供信息支持和借鉴参考。

Abstract: Newborn screening and patient registration system are the basis for rare disease management. This study introduces the status of international newborn screening and rare disease registration, summarizes their characteristics, and provides information and references for improving and promoting rare disease management in China.