Results 131 to 140 of about 2,361,484 (180)

WCN25-1779 SUCCESSFUL KIDNEY REPLACEMENT THERAPY IN BERNARD SOULIER SYNDROME ; CHALLENGES FOR NEPHROLOGIST

open access: yesKidney International Reports
Aniket Hase   +6 more
doaj   +1 more source

A Brazilian case of Bernard-Soulier syndrome with two distinct founder mutations. [PDF]

open access: yesHum Genome Var, 2017
Kanda K   +5 more
europepmc   +1 more source

Spectrum of the Mutations in Bernard–Soulier Syndrome [PDF]

open access: yesHuman Mutation, 2014
Bernard-Soulier syndrome (BSS) is a rare autosomal recessive bleeding disorder characterized by defects of the GPIb-IX-V complex, a platelet receptor for von Willebrand factor (VWF). Most of the mutations identified in the genes encoding for the GP1BA (GPIbα), GP1BB (GPIbβ), and GP9 (GPIX) subunits prevent expression of the complex at the platelet ...
Carlo Balduini   +2 more
exaly   +9 more sources

Anesthetic and perioperative management of a patient with Bernard-Soulier syndrome

open access: yesJournal of Clinical Anesthesia, 2004
We describe a patient with Bernard-Soulier syndrome who underwent emergency laparotomy for intraabdominal bleeding. Presentation of this recent case highlights some of the anesthetic and perioperative implications of the disease.
Georgia Kostopanagiotou   +1 more
exaly   +2 more sources

Bernard–Soulier Syndrome: An Update

Seminars in Thrombosis and Hemostasis, 2013
Bernard-Soulier syndrome (BSS) is a rare inherited platelet bleeding disorder characterized by low platelet count and abnormally large platelets (macrothrombocytopenia). Platelets from BSS patients are typically defective in surface expression of glycoprotein (GP)Ib-IX-V, a platelet-specific adhesion-signaling complex, composed of GPIbα disulfide ...
Robert K. Andrews, Michael C Berndt
exaly   +4 more sources

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