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-Soulier综合征(Bernard-Soulier Syndrome, BSS)是一种罕见的遗传性血小板功能障碍,导致血液凝固问题。BSS由血小板膜糖蛋白复合物(特别是GPIb-IX-V复合物)缺陷引起,这些蛋白质在血小板粘附和血液凝固过程中起关键作用。BSS分为不同的类型(如A型、B型和C型),每种类型由不同的基因突变引起。 Bernard-Soulier综合...
Bernard-Soulier综合征C型的英文名字是Bernard-Soulier Syndrome, Type C。基因解码表明:Bernard-Soulier综合征C型是由于GP Ib-IX-V复合物的突变引起的。这个复合物是由GP Ibα、GP Ibβ、GP IX和GP V四个亚单位组成的。突变可以发生在这些亚单位的基因中,导致复合物的功能异常或缺失,从而引起Bernard-Soulier综合...
... 伯-霍二氏综合征 bernard-horner syndrome 伯-苏氏综合征 bernard-soulier syndrome 伯纳尔氏管 bernards duc…www.juyy.net|基于1 个网页 3. 柏立耳索学耶氏症后群 如患上魏白兰特公爵因子缺乏症(von Willebrand's disease)、尿毒症(Uremia)、柏立耳索学耶氏症后群(Bernard-Soulier syndrom…www.hkmedlab....
⏩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 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 (bĕr-năr′sool-yā′) [Jean A. Bernard, Fr. hematologist, 1907-2006; Jean-Pierre Soulier, Fr. hematologist, 1915-2003] An autosomal recessive bleeding disorder marked by an inherited deficiency of a platelet glycoprotein. The platelets are large. Bleeding results ...
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...
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...
Bernard Soulier Syndrome (BSS) is a rare autosomal platelet disorder characterized by mutations in the von Willebrand factor platelet receptor complex GPIb-V-IX. In this work we have generated an induced pluripotent stem cell (BSS3-PBMC-iPS4F8) from peripheral blood mononuclear cells of a BSS ...