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Updated: Jan 10, 2026

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线粒体疾病诊断延迟的驱动因素:错过了法典特征的识别

Rory J Tinker1, Neil Jacob1, Mohammad Ghouse Syed2

  • 1Department of Medical Genetics and Genomics, Icahn School of Medicine at Mount Sinai, 1428 Madison Ave, Atran Building, 1st Floor, New York, NY 10029, USA.

medRxiv : the preprint server for health sciences
|November 24, 2025
PubMed
概括

线粒体疾病的诊断延迟主要是由于未能识别早期症状,而不是测试限制. 较早的识别和系统的数据捕获可以显著缩短患者的诊断旅程.

关键词:
诊断延迟是因为诊断延迟.电子健康记录 (EHR) 是一种电子医疗记录.基因型-第一个诊断.人类现象型本体学 (HPO)错过了诊断机会.线粒体疾病 线粒体疾病自然语言处理 (NLP)现象型识别 现象型识别

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