Von Willebrand disease (VWD) is the most common inherited coagulation disorder to be seen in humans. It originates from a deficiency and/or dysfunction of the von Willebrand factor (VWF), a large multimeric glycoprotein playing a central role in the hemostasis process. Diagnosing VWD may be complicated because of the heterogeneous nature of the disorder. A new mechanistic model of VWD, identified from clinical data, is presented in this paper. The model allows for the automatic detection of VWD variants, elucidating the critical pathways involved in the disease recognition and characterisation.

Towards model-based diagnosis of von Willebrand disease

GALVANIN, FEDERICO;CASONATO, SANDRA;PADRINI, ROBERTO;BAROLO, MASSIMILIANO;BEZZO, FABRIZIO
2014

Abstract

Von Willebrand disease (VWD) is the most common inherited coagulation disorder to be seen in humans. It originates from a deficiency and/or dysfunction of the von Willebrand factor (VWF), a large multimeric glycoprotein playing a central role in the hemostasis process. Diagnosing VWD may be complicated because of the heterogeneous nature of the disorder. A new mechanistic model of VWD, identified from clinical data, is presented in this paper. The model allows for the automatic detection of VWD variants, elucidating the critical pathways involved in the disease recognition and characterisation.
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11577/2837208
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