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Updated: Sep 10, 2025

Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis
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精制CFTR相关代谢综合征 (CRMS) /囊性纤维化查阳性,不确定的诊断 (CFSPID) 诊断:CFTR2变异分类的影响

MacKenzie Wyatt1,2, Alexandra Quinn1,2, Lincoln Shade3

  • 1Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98105, USA.

International journal of neonatal screening
|August 22, 2025
PubMed
概括

更新的囊性纤维化跨膜导电调节器 (CFTR) 变异分类显著减少了像CRMS/CFSPID这样的不明确诊断. 这种重新分类为通过新生儿查发现的婴儿提供了更清晰的诊断.

关键词:
肺结核检查结果呈阳性欧盟和俄罗斯在CRMS其他国家/地区囊性纤维化囊性纤维化跨膜导电性调节基因囊性纤维化跨膜导电调节相关的代谢综合征基因检测新生儿查汗水中的化物

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