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Cerebral sinus venous thrombosis in a child with Québec platelet disorder with high-resolution intracellular localization of urokinase in platelets.

作者信息

Zabeida Alexandra, Mathews Natalie, Bouskill Vanessa, Vincelli Jennifer, Williams Suzan, Pluthero Fred G, Carcao Manuel, Kahr Walter H A

机构信息

Centre Hospitalier Universitaire Sainte-Justine, Department of Pediatrics, Université de Montréal, Montréal, Canada.

Department of Clinical Laboratory Medicine, OPTILAB Montréal, Centre Hospitalier Universitaire Sainte-Justine, Montréal, Canada.

出版信息

Res Pract Thromb Haemost. 2025 Jul 5;9(5):102966. doi: 10.1016/j.rpth.2025.102966. eCollection 2025 Jul.

DOI:10.1016/j.rpth.2025.102966
PMID:40778015
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12329585/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3990/12329585/7636ab194d02/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3990/12329585/4831fc787d9f/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3990/12329585/7636ab194d02/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3990/12329585/4831fc787d9f/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3990/12329585/7636ab194d02/gr2.jpg

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本文引用的文献

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Rare inherited coagulation and fibrinolytic defects that challenge diagnostic laboratories.罕见的遗传性凝血和纤维蛋白溶解缺陷，给诊断实验室带来挑战。
Int J Lab Hematol. 2023 Jun;45 Suppl 2:30-43. doi: 10.1111/ijlh.14084. Epub 2023 May 21.
2
Evaluation of human platelet granules by structured illumination laser fluorescence microscopy.利用结构光照明显微镜荧光技术评估人类血小板颗粒。
Platelets. 2023 Dec;34(1):2157808. doi: 10.1080/09537104.2022.2157808.
3
Management of a Left Atrial Appendage Thrombus Due to Atrial Fibrillation Complicating Québec Platelet Disorder.
Can J Cardiol. 2022 Sep;38(9):1464-1466. doi: 10.1016/j.cjca.2022.04.010. Epub 2022 Apr 15.
4
Tranexamic acid evidence and controversies: An illustrated review.氨甲环酸的证据与争议：图文并茂的综述
Res Pract Thromb Haemost. 2021 Jul 14;5(5):e12546. doi: 10.1002/rth2.12546. eCollection 2021 Jul.
5
Improved platelet counts during prolonged tranexamic therapy for Quebec platelet disorder implicate the underlying fibrinolytic defect as the cause of lower platelet counts.在针对魁北克血小板疾病的长期氨甲环酸治疗期间血小板计数得到改善，这表明潜在的纤维蛋白溶解缺陷是血小板计数降低的原因。
Int J Lab Hematol. 2020 Dec;42(6):e274-e276. doi: 10.1111/ijlh.13311. Epub 2020 Aug 9.
6
Enhancer-gene rewiring in the pathogenesis of Quebec platelet disorder.魁北克血小板紊乱发病机制中的增强子-基因重排。
Blood. 2020 Dec 3;136(23):2679-2690. doi: 10.1182/blood.2020005394.
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Imaging Platelets and Megakaryocytes by High-Resolution Laser Fluorescence Microscopy.通过高分辨率激光荧光显微镜对血小板和巨核细胞进行成像
Methods Mol Biol. 2018;1812:13-31. doi: 10.1007/978-1-4939-8585-2_2.
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Intracellular Trafficking, Localization, and Mobilization of Platelet-Borne Thiol Isomerases.血小板源性硫醇异构酶的细胞内运输、定位及动员
Arterioscler Thromb Vasc Biol. 2016 Jun;36(6):1164-73. doi: 10.1161/ATVBAHA.116.307461. Epub 2016 Apr 14.
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Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene.魁北克血小板紊乱患者的尿激酶纤溶酶原激活物基因 PLAU 存在串联重复。
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