Congenital Thrombotic Thrombocytopenic Purpura
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The aTTP diagnosis was suspected on the basis of the presence of thrombocytopenia and microangiopathic hemolytic anemia with no alternative causes, and was confirmed centrally by a severe plasma deficiency of ADAMTS13 activity (<10%).
|
31685248 |
2020 |
Congenital Thrombotic Thrombocytopenic Purpura
|
0.800 |
Biomarker
|
disease |
BEFREE |
The patient underwent plasma exchange and started rituximab for presumed immune TTP; however, anti-ADAMTS13 antibody titres were negative on two occasions.
|
31585956 |
2019 |
Congenital Thrombotic Thrombocytopenic Purpura
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Reduced ADAMTS13 activity during TTP remission is associated with stroke in TTP survivors.
|
31431443 |
2019 |
Congenital Thrombotic Thrombocytopenic Purpura
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
Congenital Thrombotic Thrombocytopenic Purpura
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Unique case of autoantibody mediated inactivation of ADAMTS13 in an Indian TTP patient.
|
30953939 |
2019 |
Congenital Thrombotic Thrombocytopenic Purpura
|
0.800 |
Biomarker
|
disease |
BEFREE |
Acquired thrombotic thrombocytopenic purpura (TTP) is a rare thrombotic microangiopathy caused by the immune-mediated severe deficiency of ADAMTS13.
|
30861548 |
2019 |
Congenital Thrombotic Thrombocytopenic Purpura
|
0.800 |
Biomarker
|
disease |
BEFREE |
Congenital thrombotic thrombocytopenic purpura (cTTP) is an ultra-rare thrombomicroangiopathy caused by an inherited deficiency of a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13 (ADAMTS13).
|
30770395 |
2019 |
Congenital Thrombotic Thrombocytopenic Purpura
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The congenital form of the disease (Upshaw-Schulman syndrome) is related to ADAMTS13 mutations.
|
30762934 |
2019 |
Congenital Thrombotic Thrombocytopenic Purpura
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
In this article, we review the epidemiology, natural history, and clinical presentation of TTP and laboratory assays for TTP including ADAMTS13 activity and inhibitor assays.
|
30504354 |
2018 |
Congenital Thrombotic Thrombocytopenic Purpura
|
0.800 |
Biomarker
|
disease |
BEFREE |
We present a pharmacokinetic analysis of ADAMTS-13 in six patients with congenital TTP on established regimes following PI.
|
30475428 |
2019 |
Congenital Thrombotic Thrombocytopenic Purpura
|
0.800 |
Biomarker
|
disease |
BEFREE |
Comparison of selected laboratory parameters and ADAMTS13 pharmacokinetics among patients with USS was performed.
|
30394580 |
2019 |
Congenital Thrombotic Thrombocytopenic Purpura
|
0.800 |
Biomarker
|
disease |
BEFREE |
This article evaluates the influence of <i>ADAMTS13</i> sequence variations on both clinical/biological phenotype and ADAMTS13 conformation in USS.
|
30312976 |
2018 |
Congenital Thrombotic Thrombocytopenic Purpura
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
These findings suggest that the severity of glomerular injury in USS is associated with deficient ADAMTS13 expression and local complement activation, particularly in vascular regions with higher endothelial shear stress.
|
30195146 |
2018 |
Congenital Thrombotic Thrombocytopenic Purpura
|
0.800 |
Biomarker
|
disease |
BEFREE |
Patients with TTP and severe ADAMTS13 deficiency have high risk of disease recurrence, yet the ability to predict which patients will have recurrence remains limited.
|
30178615 |
2018 |
Congenital Thrombotic Thrombocytopenic Purpura
|
0.800 |
Biomarker
|
disease |
BEFREE |
To investigate the development of the ADAMTS13-specific antibody response during the course of the disease, we analyzed the concentration, subclass distribution, and inhibitory potential of anti-ADAMTS13 IgG autoantibodies in samples of TTP patients drawn during the first acute phase, in remission, and during relapse.
|
30061898 |
2018 |
Congenital Thrombotic Thrombocytopenic Purpura
|
0.800 |
Biomarker
|
disease |
BEFREE |
ADAMTS13 activity may be reported as normal in a patient with characteristic clinical features of TTP, or the unexpected report of ADAMTS13 deficiency in a patient with another established disorder may lead to the discovery of TTP.
|
29945940 |
2018 |
Congenital Thrombotic Thrombocytopenic Purpura
|
0.800 |
Biomarker
|
disease |
BEFREE |
Characteristic clinical picture and gene sequencing of a disintegrin and metalloproteinase with thrombospondin motifs 13 confirmed the diagnosis of Upshaw-Schulman syndrome.
|
29771863 |
2019 |
Congenital Thrombotic Thrombocytopenic Purpura
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Patients suffering from congenital thrombotic thrombocytopenic purpura (cTTP) have a deficiency in ADAMTS13 due to mutations in their ADAMTS13 gene.
|
29763513 |
2018 |
Congenital Thrombotic Thrombocytopenic Purpura
|
0.800 |
Biomarker
|
disease |
BEFREE |
Acquired thrombotic thrombocytopenic purpura (TTP) is an autoimmune disorder resulting in potentially life-threating systemic thrombotic microangiopathy due to production of antibodies directed against the von Willebrand factor-cleaving protease ADAMTS13.
|
29564686 |
2018 |
Congenital Thrombotic Thrombocytopenic Purpura
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Genetic and Functional Characterization of ADAMTS13 Variants in a Patient Cohort with Upshaw-Schulman Syndrome Investigated in Germany.
|
29554699 |
2018 |
Congenital Thrombotic Thrombocytopenic Purpura
|
0.800 |
Biomarker
|
disease |
BEFREE |
TTP is the consequence of a severe ADAMTS-13 deficiency, either immune-mediated as a result of circulating autoantibodies, or caused by mutations in ADAMTS-13.
|
29356300 |
2018 |
Congenital Thrombotic Thrombocytopenic Purpura
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
TTP is associated with a high mortality and arises from either a congenital or acquired autoimmune deficiency of the plasma enzyme ADAMTS13.
|
29304523 |
2018 |
Congenital Thrombotic Thrombocytopenic Purpura
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Patients/Methods We studied an independent cohort of 112 consecutive hospitalized patients with suspected thrombotic microangiopathy and appropriate ADAMTS-13 testing (including 21 patients with TTP diagnosis).
|
29064619 |
2018 |
Congenital Thrombotic Thrombocytopenic Purpura
|
0.800 |
Biomarker
|
disease |
BEFREE |
These results suggest that highly elevated plasma VWF might accelerate platelet thrombus formation not only in the circulation but also on the surface of vascular endothelial cells in the setting of ADAMTS13 deficiency in USS.
|
29040872 |
2017 |
Congenital Thrombotic Thrombocytopenic Purpura
|
0.800 |
Biomarker
|
disease |
BEFREE |
Recombinant ADAMTS-13: first-in-human pharmacokinetics and safety in congenital thrombotic thrombocytopenic purpura.
|
28912376 |
2017 |