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[法国新生儿查:新闻和观点]

Emeline Gernez1, Estelle Roland1, Claire-Marie Dhaenens1

  • 1CHU de Lille, Centre de Biologie Pathologie Génétique, Laboratoire de dépistage périnatal, France.

Annales de biologie clinique
|April 19, 2024
PubMed
概括

法国新生儿查现在包括八种新的遗传代谢性疾病,这些疾病是使用双重质谱法识别的. 这项扩展旨在改善这些罕见疾病的早期检测和管理.

科学领域:

  • 公共卫生 公共卫生
  • 遗传学 是一个遗传学.
  • 儿科 儿科 儿科
关键词:
乙卡尼丁酸盐是一种氨基酸是氨基酸中的一种.质谱测量质谱测量质谱测量质量测量质谱测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量代谢性疾病是代谢性疾病.新生儿查 新生儿查有机酸 有机酸有机酸

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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
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