Jove
Visualize
联系我们
JoVE
x logofacebook logolinkedin logoyoutube logo
关于 JoVE
概览领导团队博客JoVE 帮助中心
作者
出版流程编辑委员会范围与政策同行评审常见问题投稿
图书馆员
用户评价订阅访问资源图书馆顾问委员会常见问题
研究
JoVE JournalMethods CollectionsJoVE Encyclopedia of Experiments存档
教育
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab Manual教师资源中心教师网站
使用条款与条件
隐私政策
政策

相关实验视频

Updated: Jul 16, 2025

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
19:15

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale

Published on: August 25, 2014

86.1K

新生儿查 新生儿查

Kara B Pappas1

  • 1Division of Genetics, Genomics and Metabolic Disorders, Children's Hospital of Michigan, Detroit, MI, USA; Department of Pediatrics, Central Michigan University, Mount Pleasant, MI, USA.

Pediatric clinics of North America
|September 13, 2023
PubMed
概括

新生儿查识别了早期干预的关键婴儿情况. 儿科医生是管理查结果,诊断和治疗的关键,以预防严重的健康问题.

相关概念视频

您也可能阅读

相关文章

通过共同作者、期刊和引用图与本文相关的文章。

排序
Same author

Transcobalamin receptor deficiency in seven asymptomatic patients ascertained through newborn screening.

American journal of medical genetics. Part A·2022
Same author

A cautionary tale of pyridoxine toxicity in cystathionine beta-synthase deficiency detected by two-tier newborn screening highlights the need for clear pyridoxine dosing guidelines.

American journal of medical genetics. Part A·2020
Same author

The Current State of Newborn Screening in the United States.

Pediatric clinics of North America·2019
Same author

Gender role across development in adults with 46,XY disorders of sex development including perineoscrotal hypospadias and small phallus raised male or female.

Journal of pediatric endocrinology & metabolism : JPEM·2008

科学领域:

  • 医学遗传学 医学遗传学
  • 儿科 儿科 儿科
  • 公共卫生 公共卫生

背景情况:

  • 新生儿查对于早期发现先天性疾病至关重要.
  • 早期诊断和治疗显著降低了发病率和死亡率.
  • 儿科医生在新生儿查过程中发挥着核心作用.

研究的目的:

  • 提供美国新生儿查的全面概述.
  • 详细介绍各种查疾病,其症状和管理.
  • 为医疗保健提供者讨论新生儿查的实际方面.

主要方法:

  • 对当前新生儿查实践的文献综述.
  • 综合有关常见和罕见遗传疾病的信息.
  • 查,诊断和治疗途径的概要.

主要成果:

  • 关键新生儿查测试和疾病的概述.
  • 临床表现的描述和查条件的遗传基础.
  • 目前治疗和管理策略的总结.

结论:

  • 新生儿查是基本的公共卫生服务.
  • 有效的管理依赖于及时诊断和协调的护理.
  • 持续的警和更新的查协议对于婴儿健康至关重要.
关键词:
遗传性心脏病是一种先天性心脏病.内分泌系统疾病 内分泌系统疾病银河系血症 (Galactosemia) 是一种疾病.听力损失 听力损失血球蛋白病变 血球蛋白病变免疫缺陷是一种免疫缺陷.代谢中的先天性错误新生儿查 新生儿查

更多相关视频

Non-invasive Optical Measurement of Cerebral Metabolism and Hemodynamics in Infants
11:39

Non-invasive Optical Measurement of Cerebral Metabolism and Hemodynamics in Infants

Published on: March 14, 2013

20.5K
Transcutaneous Microcirculatory Imaging in Preterm Neonates
06:27

Transcutaneous Microcirculatory Imaging in Preterm Neonates

Published on: December 31, 2015

8.3K

相关实验视频

Last Updated: Jul 16, 2025

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
19:15

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale

Published on: August 25, 2014

86.1K
Non-invasive Optical Measurement of Cerebral Metabolism and Hemodynamics in Infants
11:39

Non-invasive Optical Measurement of Cerebral Metabolism and Hemodynamics in Infants

Published on: March 14, 2013

20.5K
Transcutaneous Microcirculatory Imaging in Preterm Neonates
06:27

Transcutaneous Microcirculatory Imaging in Preterm Neonates

Published on: December 31, 2015

8.3K