巨大血小板综合征又称Bernard-Soulier综合征(Bernard-Soulier syndrome,BSS),以轻、中度的血小板减少,血小板体积增大,出血时间延长,凝血酶原...更多>> 1.小儿巨大血小板综合征是由什么原因引起的? 3.小儿巨大血小板综合征的治疗方法有哪些? 5.小儿巨大血小板综合征容易与哪些疾病混淆?
bernard-souliersyndrome网络巨大血小板综合征网络释义 1. 巨大血小板综合征 1、巨大血小板综合征(Bernard-Souliersyndrome)为常染色体隐性遗传,生后数日即可发病,临床多见中度出血征。其基本 …www.baike.com|基于5个网页© 2025 Microsoft 隐私声明和 Cookie 法律声明 广告 帮助 反馈...
Bernard-Soulier综合征A1/A2型的英文名字是Bernard-Soulier Syndrome, Type A1/A2。基因解码表明:Bernard-Soulier综合征A1/A2型是由于GP1BA基因或GP1BB基因的突变引起的。这两个基因编码了血小板表面的GPIb-α和GPIb-β亚单位,它们与VWF(von Willebrand因子)结合,从而使血小板能够黏附到受损的血管壁上。GP1BA基因突变...
Bernard-Soulier syndrome (BSS), also known as Hemorrhagiparous thrombocytic dystrophy, is a hereditary bleeding disorder affecting the megakaryocyte/platelet lineage and characterized by bleeding tendency, giant blood platelets and low platelet counts. This syndrome is extremely rare as only ~100 cases...
⏩Bernard-Soulier syndrome (BSS) also known as Hemorrhagiparous thrombocytic dystrophy, is a hereditary bleeding disorder affecting the megakaryocyte/platelet lineage and characterized by bleeding tendency, giant blood platelets and low platelet counts.⠀...
Bernard-Soulier综合征(血小板功能异常)是英文Bernard-Soulier syndrome的中文翻译。这一疾病又叫做;巨大血小板综合征,BSS。该病是一种基因病、遗传病。佳学基因通过基因解码找到了导致这一疾病发生的基因。可以通过基因检测阻止Bernard-Soulier综合征(血小板功能异常)在后代或者二胎中的出现。根据《人的基因序列变化与人体...
Bernard-Soulier syndrome (BSS) is a rare autosomal bleeding disorder characterized clinically by prolonged skin bleeding time, normal clot retraction and thrombocytopenia with large and morphologically abnormal platelets, and biochemically by the absence of platelet membrane glycoproteins (GP)Ib, V and IX...
Bernard-Soulier Syndrome is an autosomal recessively transmitted disorder characterized by the absence of glycoprotein Ib/IX (GPIb/IX), which binds von Willebrand Factor (vWF), resulting in defective...Lambert M. SurhoneMariam T. TennoeSusan F. Henssonow...
Most patients with BSS have a platelet count between 20 to 100 billion/L. However, a count as low as 10 x 10^9/L has been reported.[15]The peripheral smear usually presents thrombocytopenia and large platelets (seeImage.Bernard Soulier Syndrome). If there is a debate on whether the plate...
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