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Familial Hypercholesterolemia Detection Through Machine Learning Algorithms: A Low-Hanging Fruit.

作者信息

Reeskamp Laurens F, Annink Maxim E, Schonck Willemijn A M

机构信息

Department of Vascular Medicine, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.

Department of Internal Medicine, OLVG Oost, Amsterdam, the Netherlands.

出版信息

JACC Adv. 2024 Aug 21;3(9):101181. doi: 10.1016/j.jacadv.2024.101181. eCollection 2024 Sep.

DOI:10.1016/j.jacadv.2024.101181
PMID:39372471
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11450937/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7a52/11450937/338652b8c862/ga1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7a52/11450937/338652b8c862/ga1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7a52/11450937/338652b8c862/ga1.jpg

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本文引用的文献

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Eur J Prev Cardiol. 2024 May 11;31(7):892-900. doi: 10.1093/eurjpc/zwae028.
2
Yield of Familial Hypercholesterolemia Genetic and Phenotypic Diagnoses After Electronic Health Record and Genomic Data Screening.电子健康记录和基因组数据筛查后家族性高胆固醇血症遗传和表型诊断的产量。
J Am Heart Assoc. 2023 Jul 4;12(13):e030073. doi: 10.1161/JAHA.123.030073. Epub 2023 Jun 29.
3
Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study.
世界范围内纯合子家族性高胆固醇血症的经验：回顾性队列研究。
Lancet. 2022 Feb 19;399(10326):719-728. doi: 10.1016/S0140-6736(21)02001-8. Epub 2022 Jan 28.
4
Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC).家族性高胆固醇血症的全球视角：来自 EAS 家族性高胆固醇血症研究协作组（FHSC）的横断面研究。
Lancet. 2021 Nov 6;398(10312):1713-1725. doi: 10.1016/S0140-6736(21)01122-3. Epub 2021 Sep 7.
5
Large-Scale Screening for Monogenic and Clinically Defined Familial Hypercholesterolemia in Iceland.冰岛大规模筛查单基因和临床定义的家族性高胆固醇血症。
Arterioscler Thromb Vasc Biol. 2021 Oct;41(10):2616-2628. doi: 10.1161/ATVBAHA.120.315904. Epub 2021 Aug 19.
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Genetic basis of hypercholesterolemia in adults.成人高胆固醇血症的遗传基础。
NPJ Genom Med. 2021 Apr 14;6(1):28. doi: 10.1038/s41525-021-00190-z.
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Precision screening for familial hypercholesterolaemia: a machine learning study applied to electronic health encounter data.家族性高胆固醇血症的精准筛查：应用于电子健康就诊数据的机器学习研究。
Lancet Digit Health. 2019 Dec;1(8):e393-e402. doi: 10.1016/S2589-7500(19)30150-5. Epub 2019 Oct 21.
8
Advances, gaps and opportunities in the detection of familial hypercholesterolemia: overview of current and future screening and detection methods.家族性高胆固醇血症检测的进展、差距和机遇：当前和未来筛查及检测方法概述。
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9
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