Von Willebrand's disease in the year 2003: towards the complete identification of gene defects for correct diagnosis and treatment

G Castaman, AB Federici, F Rodeghiero… - …, 2003 - haematologica.org
BACKGROUND: Von Willebrand's disease (VWD) is an autosomally inherited bleeding
disorder caused by a deficiency or abnormality of von Willebrand factor (VWF). VWF is a …

Congenital von Willebrand disease type 3: clinical manifestations, pathophysiology and molecular biology

JCJ Eikenboom - Best practice & research Clinical haematology, 2001 - Elsevier
von Willebrand disease type 3 is the most severe form of this condition. Patients present with
a moderate-to-severe bleeding tendency. The plasma von Willebrand factor level in these …

Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for …

A Goodeve, J Eikenboom, G Castaman, F Rodeghiero… - Blood, 2007 - ashpublications.org
Type 1 von Willebrand disease (VWD) is characterized by a personal and family history of
bleeding coincident with reduced levels of normal plasma von Willebrand factor (VWF). The …

The bleeding score predicts clinical outcomes and replacement therapy in adults with von Willebrand disease

AB Federici, P Bucciarelli, G Castaman… - Blood, The Journal …, 2014 - ashpublications.org
Analyses of the bleeding tendency by means of the bleeding score (BS) have been
proposed until now to confirm diagnosis but not to predict clinical outcomes in patients with …

Clinical manifestations and complications of childbirth and replacement therapy in 385 Iranian patients with type 3 von Willebrand disease

M Lak, F Peyvandi, PM Mannucci - British journal of …, 2000 - Wiley Online Library
Type 3 is the most severe form of von Willebrand disease (VWD) transmitted as an
autosomal recessive trait. We collected data on the clinical manifestations of type 3 VWD by …

Pharmacokinetics and safety of a novel recombinant human von Willebrand factor manufactured with a plasma-free method: a prospective clinical trial

PM Mannucci, C Kempton, C Millar… - Blood, The Journal …, 2013 - ashpublications.org
Safety and pharmacokinetics (PK) of recombinant von Willebrand factor (rVWF) combined at
a fixed ratio with recombinant factor VIII (rFVIII) were investigated in 32 subjects with type 3 …

Guidelines for the diagnosis and management of von Willebrand disease in Italy

AB Federici, G Castaman, PM Mannucci… - …, 2002 - Wiley Online Library
von Willebrand disease (vWD) is a bleeding disorder caused by quantitative (type 1 and 3)
or qualitative (type 2) defects of von Willebrand factor (vWF). The molecular basis of type …

Molecular defects in type 3 von Willebrand disease: updated results from 40 multiethnic patients

L Baronciani, G Cozzi, MT Canciani, F Peyvandi… - Blood Cells, Molecules …, 2003 - Elsevier
Type 3 von Willebrand disease (VWD) is characterized by unmeasurable von Willebrand
factor (VWF) levels in plasma and platelets and severe hemorrhagic symptoms. We have …

Genotypes of European and Iranian patients with type 3 von Willebrand disease enrolled in 3WINTERS-IPS

L Baronciani, I Peake, R Schneppenheim… - Blood …, 2021 - ashpublications.org
Type 3 von Willebrand disease (VWD3) is a rare and severe bleeding disorder
characterized by often undetectable von Willebrand factor (VWF) plasma levels, a recessive …

[HTML][HTML] Genetic determinants of enhanced von Willebrand factor clearance from plasma

O Seidizadeh, L Baronciani, MT Pagliari… - Journal of Thrombosis …, 2023 - Elsevier
Abstract Background Enhanced von Willebrand factor (VWF) clearance from plasma is
associated with von Willebrand disease (VWD). However, the genetic background of this …