一个全面的方法来诊断利氏综合征的频谱
Manuela Schubert Baldo1,2, Luísa Azevedo3,4, Margarida Paiva Coelho2,3,5
1Research and Development Unit, Human Genetics Department, National Institute of Health Doutor Ricardo Jorge, 4000-053 Porto, Portugal.
Diagnostics (Basel, Switzerland)
|October 16, 2024
概括
对于利氏综合征谱 (LSS) 的新诊断管道使用生物化学测试以获得更快的结果. 这种方法有助于早期干预LSS可治疗的原因.
科学领域:
- 生物化学 生物化学
- 遗传学 遗传学 是一个
- 儿科神经学 儿科神经学
背景情况:
- 李氏综合征谱 (LSS) 是对李氏综合征和相关表型的新定义命名法.
- 疾病呈现异质,需要更新诊断指南.
- 基于最近的共识建议,开发了一个简单的诊断管道.
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