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@article{1364933,
author = {Michiels, Jan Jacques and Batorova, Angelika and Prigancova, Tatiana and Smejkal, Petr and Penka, Miroslav and Vangenechten, Inge and Gadisseur, Alain},
article_location = {Pleasanton},
article_number = {3},
doi = {http://dx.doi.org/10.5315/wjh.v5.i3.61},
keywords = {von Willebrand disease; von Willebrand factor; ADAMTS13; DDAVP; von Willebrand factor assays; von Willebrand factor multimers; von Willebrand factor mutations},
language = {eng},
issn = {2218-6204},
journal = {World Journal of Hematology},
title = {Changing insights in the diagnosis and classification of autosomal recessive and dominant von Willebrand diseases 1980-2015},
volume = {5},
year = {2016}
}
TY - JOUR
ID - 1364933
AU - Michiels, Jan Jacques - Batorova, Angelika - Prigancova, Tatiana - Smejkal, Petr - Penka, Miroslav - Vangenechten, Inge - Gadisseur, Alain
PY - 2016
TI - Changing insights in the diagnosis and classification of autosomal recessive and dominant von Willebrand diseases 1980-2015
JF - World Journal of Hematology
VL - 5
IS - 3
SP - 61-74
EP - 61-74
PB - Baishideng Publishing Group Inc.
SN - 22186204
KW - von Willebrand disease
KW - von Willebrand factor
KW - ADAMTS13
KW - DDAVP
KW - von Willebrand factor assays
KW - von Willebrand factor multimers
KW - von Willebrand factor mutations
N2 - The European Clinical Laboratory and Molecular (ECLM) criteria define 10 distinct Willebrand diseases (VWD): recessive type 3, severe 1, 2C and 2N; dominant VWD type 1 secretion/clearance defect, 2A, 2B, 2E, 2M and 2D; and mild type 1 VWD (usually carriers of recessive VWD). Recessive severe 1 and 2C VWD are characterized by secretion and multimerization defects caused by mutations in the D1-D2 domain. Recessive 2N VWD is a mild hemophilia due to D´-FVlH-von Willebrand factor (VWF) binding site mutations. Dominant 2E VWD caused by heterozygous missense mutations in the D3 domain is featured by a secretion-clearance-multimerization VWF defect. Dominant VWD type 2M due to loss of function mutations in the Al domain is characterized by decreased ristocetin-induced platelet aggregation and VWF:RCo, normal VWF multimers and VWF:CB, a poor response of VWF:RCo and good response of VWF:CB to desmopressin (DDAVP).
ER -
MICHIELS, Jan Jacques, Angelika BATOROVA, Tatiana PRIGANCOVA, Petr SMEJKAL, Miroslav PENKA, Inge VANGENECHTEN a Alain GADISSEUR. Changing insights in the diagnosis and classification of autosomal recessive and dominant von Willebrand diseases 1980-2015. \textit{World Journal of Hematology}. Pleasanton: Baishideng Publishing Group Inc., roč.~5, č.~3, s.~61-74. ISSN~2218-6204. doi:10.5315/wjh.v5.i3.61. 2016.
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