Associated Papers
Global prevalence of hereditary thrombotic thrombocytopenic purpura determined by genetic analysis.
Seidizadeh O et al.
Blood Advances, 2024
Clinical Manifestations, Current and Future Therapy, and Long-Term Outcomes in Congenital Thrombotic Thrombocytopenic Purpura.
Sakai K et al.
Journal of Clinical Medicine, 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
Complement activation associated with ADAMTS13 deficiency may contribute to the characteristic glomerular manifestations in Upshaw-Schulman syndrome.
Itami H et al.
Thrombosis Research, 2018
Pathophysiology of thrombotic thrombocytopenic purpura and hemolytic uremic syndrome.
Kremer Hovinga JA et al.
Journal of Thrombosis and Haemostasis : Jth, 2018
Congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome) caused by novel ADAMTS13 mutations.
Kim HY et al.
British Journal of Haematology, 2016
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Inherited ADAMTS13 deficiency (Upshaw-Schulman syndrome): a short review.
Pérez-Rodríguez A et al.
Thrombosis Research, 2014
Proteolytic processing of von Willebrand factor by adamts13 and leukocyte proteases.
Lancellotti S et al.
Mediterranean Journal of Hematology and Infectious Diseases, 2013
Long term follow up of congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome) on hemodialysis for 19 years: a case report.
Mise K et al.
Bmc Nephrology, 2013
ADAMTS13 activity and genetic mutations in Japan.
Miyata T et al.
Hamostaseologie, 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
[ADAMTS13, von Willebrand factor specific cleaving protease].
Veyradier A et al.
Medecine Sciences : M/s, 2011
Natural history of Upshaw-Schulman syndrome based on ADAMTS13 gene analysis in Japan.
Fujimura Y et al.
Journal of Thrombosis and Haemostasis : Jth, 2011
ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura.
Lotta LA et al.
Human Mutation, 2010
Inherited and de novo mutations of ADAMTS13 in a patient with Upshaw-Schulman syndrome.
Kokame K et al.
Journal of Thrombosis and Haemostasis : Jth, 2008
Pathogenesis of thrombotic microangiopathies.
Zheng XL et al.
Annual Review of Pathology, 2008
[Development and application of a new ADAMTS13 assay for TTP diagnosis].
Kokame K et al.
Rinsho Byori. the Japanese Journal of Clinical Pathology, 2005
Ten candidate ADAMTS13 mutations in six French families with congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome).
Veyradier A et al.
Journal of Thrombosis and Haemostasis : Jth, 2004
Molecular characterization of ADAMTS13 gene mutations in Japanese patients with Upshaw-Schulman syndrome.
Matsumoto M et al.
Blood, 2004