Shaping the future of care for patients with Ehlers-Danlos syndromes: from multidisciplinary management to precision medicine.
作者信息
Xu Kexin, Li Guozhuang, Zhang Terry Jianguo, Wu Nan
机构信息
Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, China.
Beijing Key Laboratory of Big Data Innovation and Application for Skeletal Health Medical Care, Beijing, 100730, China.
出版信息
Orphanet J Rare Dis. 2025 Mar 3;20(1):98. doi: 10.1186/s13023-025-03615-5.
Abstract
摘要
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本文引用的文献
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Efficacy of Irbesartan in Celiprolol-Treated Patients With Vascular Ehlers-Danlos Syndrome.厄贝沙坦对接受塞利洛尔治疗的血管性埃勒斯-当洛综合征患者的疗效。
Circulation. 2025 Mar 11;151(10):686-695. doi: 10.1161/CIRCULATIONAHA.124.072849. Epub 2025 Feb 5.
2
Map2k6 is a potent genetic modifier of arterial rupture in vascular Ehlers-Danlos syndrome mice.Map2k6是血管性埃勒斯-当洛综合征小鼠动脉破裂的一种强效基因修饰因子。
JCI Insight. 2025 Jan 21;10(5):e187315. doi: 10.1172/jci.insight.187315.
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Integrative Multi-Omics Approach in Vascular Ehlers-Danlos Syndrome: Further Insights into the Disease Mechanisms by Proteomic Analysis of Patient Dermal Fibroblasts.血管性埃勒斯-当洛综合征的综合多组学方法：通过对患者皮肤成纤维细胞的蛋白质组分析进一步洞察疾病机制
Biomedicines. 2024 Nov 30;12(12):2749. doi: 10.3390/biomedicines12122749.
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Integrating deep phenotyping with genetic analysis: a comprehensive workflow for diagnosis and management of rare bone diseases.将深度表型分析与基因分析相结合：一种用于罕见骨骼疾病诊断和管理的综合工作流程。
Orphanet J Rare Dis. 2024 Oct 8;19(1):371. doi: 10.1186/s13023-024-03367-8.
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Modulating the extracellular matrix to treat wound healing defects in Ehlers-Danlos syndrome.调节细胞外基质以治疗埃勒斯-当洛综合征中的伤口愈合缺陷。
iScience. 2024 Aug 6;27(9):110676. doi: 10.1016/j.isci.2024.110676. eCollection 2024 Sep 20.
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Diagnosis and treatment of the Ehlers-Danlos syndromes in China: synopsis of the first guidelines.中国的埃勒斯-当洛斯综合征的诊断和治疗：首个指南概要。
Orphanet J Rare Dis. 2024 May 13;19(1):194. doi: 10.1186/s13023-024-03121-0.
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Heterozygous THBS2 pathogenic variant causes Ehlers-Danlos syndrome with prominent vascular features in humans and mice.杂合性 THBS2 致病性变异导致人类和小鼠中具有显著血管特征的埃勒斯-当洛斯综合征。
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