Insights from the Hereditary Thrombotic Thrombocytopenic Purpura Registry: Discussion of Key Findings Based on Individual Cases from Switzerland
Johanna A. Kremer Hovinga, Thomas R. Braschler, Florian Buchkremer, Stefan Farese, Heinz Hengartner, Pierre-Yves Lovey, Carlo R. Largiadèr, Behrouz Mansouri Taleghani, Erika Tarasco · Zeitschrift für Orthopädie und Unfallchirurgie · 2020 · Heft 11 · S. S5-S14
Bibliografische Angaben
Zusammenfassung
AbstractThe Hereditary TTP Registry is an international cohort study for patients with a confirmed or suspected diagnosis of hereditary thrombotic thrombocytopenic purpura (hTTP) and their family members. Hereditary TTP is an ultra-rare blood disorder (prevalence of ∼1–2 cases per million), the result of autosomal-recessively inherited congenital ADAMTS13 (a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13) deficiency (ADAMTS13 activity