An expert rule-based approach for identifying infantile-onset Pompe disease patients using retrospective electronic health records.
第一作者:
Jaloliddin,Rustamov
第一单位:
Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates. 700043175@uaeu.ac.ae.
作者:
医学主题词
糖原贮积病Ⅱ型(Glycogen Storage Disease Type II);回顾性研究(Retrospective Studies);电子健康病历(Electronic Health Records);阿拉伯联合酋长国(United Arab Emirates);早期诊断(Early Diagnosis);新生儿筛查(Neonatal Screening);人类(Humans);男(雄)性(Male);女(雌)性(Female);婴儿, 新生(Infant, Newborn);算法(Algorithms);婴儿(Infant)
DOI
10.1038/s41598-024-72259-5
PMID
39277702
发布时间
2024-09-20
- 浏览2
Scientific reports
21523页
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