Von Willebrand disease in childhood
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Von Willebrand disease in childhood. / Schneppenheim, R; Thomas, K B; Sutor, A H.
In: SEMIN THROMB HEMOST, Vol. 21, No. 3, 01.01.1995, p. 261-75.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Von Willebrand disease in childhood
AU - Schneppenheim, R
AU - Thomas, K B
AU - Sutor, A H
PY - 1995/1/1
Y1 - 1995/1/1
N2 - Von Willebrand disease (vWD), a disorder of primary hemostasis, represents the most frequently inherited bleeding diathesis, It is caused by a quantitative reduction or a qualitative abnormality, or both, of von Willebrand factor (vWF), a glycoprotein normally found in plasma, endothelial cells, subendothelial cell space, megakaryocytes and platelets. Patients with vWD represent a heterogeneous group with different phenotypes and with clinical symptoms that vary in severity. Many of the described types and subtypes of vWD are caused by mutations and aberrations of the vWF gene. The aim of this article is to highlight the impact of gene analysis on the current knowledge of the inheritance of vWD as well as on the structure-function relationship of vWF, and to focus on the available diagnostic laboratory tests and treatment options for patients with vWD, especially in childhood.
AB - Von Willebrand disease (vWD), a disorder of primary hemostasis, represents the most frequently inherited bleeding diathesis, It is caused by a quantitative reduction or a qualitative abnormality, or both, of von Willebrand factor (vWF), a glycoprotein normally found in plasma, endothelial cells, subendothelial cell space, megakaryocytes and platelets. Patients with vWD represent a heterogeneous group with different phenotypes and with clinical symptoms that vary in severity. Many of the described types and subtypes of vWD are caused by mutations and aberrations of the vWF gene. The aim of this article is to highlight the impact of gene analysis on the current knowledge of the inheritance of vWD as well as on the structure-function relationship of vWF, and to focus on the available diagnostic laboratory tests and treatment options for patients with vWD, especially in childhood.
KW - Child
KW - Child, Preschool
KW - Humans
KW - Infant
KW - Infant, Newborn
KW - von Willebrand Diseases
U2 - 10.1055/s-2007-1000648
DO - 10.1055/s-2007-1000648
M3 - SCORING: Journal article
C2 - 8588154
VL - 21
SP - 261
EP - 275
JO - SEMIN THROMB HEMOST
JF - SEMIN THROMB HEMOST
SN - 0094-6176
IS - 3
ER -
