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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., 2016, roč.~5, č.~3, s.~61-74. ISSN~2218-6204. Dostupné z: https://dx.doi.org/10.5315/wjh.v5.i3.61.
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