Associated Papers
Global prevalence of hereditary thrombotic thrombocytopenic purpura determined by genetic analysis.
Seidizadeh O et al.
Blood Advances, 2024
A compound heterozygous ADAMTS13 mutation causes congenital thrombotic thrombocytopenic purpura: a case report.
Huang Y et al.
Frontiers in Medicine, 2024
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
Inherited ADAMTS13 mutations associated with Thrombotic Thrombocytopenic Purpura: a short review and update.
Markham-Lee Z et al.
Platelets, 2023
Morbidities and mortality in patients with hereditary thrombotic thrombocytopenic purpura.
Borogovac A et al.
Blood Advances, 2022
The global carrier frequency and genetic prevalence of Upshaw-Schulman syndrome.
Zhao T et al.
Bmc Genomic Data, 2021
Upshaw-Schulman syndrome-associated ADAMTS13 variants possess proteolytic activity at the surface of endothelial cells and in simulated circulation.
Letzer A et al.
Plos One, 2020
Characterization and treatment of congenital thrombotic thrombocytopenic purpura.
Alwan F et al.
Blood, 2019
Pathophysiology of thrombotic thrombocytopenic purpura and hemolytic uremic syndrome.
Kremer Hovinga JA et al.
Journal of Thrombosis and Haemostasis : Jth, 2018
Genetic and Functional Characterization of ADAMTS13 Variants in a Patient Cohort with Upshaw-Schulman Syndrome Investigated in Germany.
Hassenpflug WA et al.
Thrombosis and Haemostasis, 2018
Insights into 3D Structure of ADAMTS13: A Stepping Stone towards Novel Therapeutic Treatment of Thrombotic Thrombocytopenic Purpura.
Ercig B et al.
Thrombosis and Haemostasis, 2018
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Proteolytic processing of von Willebrand factor by adamts13 and leukocyte proteases.
Lancellotti S et al.
Mediterranean Journal of Hematology and Infectious Diseases, 2013
Multiple in silico tools predict phenotypic manifestations in congenital thrombotic thrombocytopenic purpura.
Hing ZA et al.
British Journal of Haematology, 2013
Paradigm shift of childhood thrombotic thrombocytopenic purpura with severe ADAMTS13 deficiency.
Yagi H et al.
Presse Medicale (paris, France : 1983), 2012
Natural history of Upshaw-Schulman syndrome based on ADAMTS13 gene analysis in Japan.
Fujimura Y et al.
Journal of Thrombosis and Haemostasis : Jth, 2011
Difficulties in diagnosing congenital thrombotic thrombocytopenic purpura.
Klukowska A et al.
Journal of Pediatric Hematology/oncology, 2010
ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura.
Lotta LA et al.
Human Mutation, 2010
Pregnancy-induced thrombocytopenia and TTP, and the risk of fetal death, in Upshaw-Schulman syndrome: a series of 15 pregnancies in 9 genotyped patients.
Fujimura Y et al.
British Journal of Haematology, 2009