Filtered By:
Source: Blood
Condition: Thrombosis
Countries: Israel Health
This page shows you your search results in order of date.
Order by Relevance | Date
Total 1 results found since Jan 2013.
Variable Clinical Presentation of Congenital Thrombotic Thrombocytopenic Purpura in a Large Cohort of Patients Carrying a New Mutation in the CUB1 Domain of ADAMTS13 Gene
Conclusion:To the best of our knowledge, this is one of the largest congenital TTP cohorts described in the literature. This cohort is unique due to the fact that all members carry the same, previously unreported, ADAMTS13 gene mutation in the CUB1 domain of the gene. Our findings support an assumption that environmental and hereditary modifiers may influence disease course. Further research of the involved families may enable us to expand the understanding of the pathophysiology and develop better treatment options for this understudied rare condition.DisclosuresNo relevant conflicts of interest to declare.
Source: Blood - November 21, 2018 Category: Hematology Authors: Pikovsky, O., Arafat, M., Ovadia, H., Sharoni, Y., Al-Athamen, K., Kanengisser-Pines, B., Keren-Politansky, A., Levi, I., Parvari, R., Rabinovich, A. Tags: 311. Disorders of Platelet Number or Function: Poster I Source Type: research
