Article
Inherited thrombotic thrombocytopenic purpura in children.
Seminars in thrombosis and hemostasis - 1 Jun 2014
Hassenpflug Wolf Achim, Budde Ulrich, Schneppenheim Sonja, Schneppenheim Reinhard
Abstract excerpt
Congenital thrombotic thrombocytopenic purpura (TTP) or Upshaw-Schulman syndrome is caused by homozygous or compound heterozygous mutations in the ADAMTS-13 (a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13) gene. We investigated 30 patients with congenital TTP and analyzed clinical data and underlying ADAMTS-13 mutations. All patients showed virtually no ADAMTS-13 activity in...
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