Insights from the Hereditary Thrombotic Thrombocytopenic Purpura Registry: Discussion of Key Findings Based on Individual Cases from Switzerland

Autor: Carlo R. Largiadèr, Thomas R. Braschler, Stefan Farese, Behrouz Mansouri Taleghani, Pierre-Yves Lovey, Heinz Hengartner, Johanna A. Kremer Hovinga, Florian Buchkremer, Erika Tarasco
Rok vydání: 2020
Předmět:
Zdroj: Hämostaseologie. 40:S5-S14
ISSN: 2567-5761
0720-9355
DOI: 10.1055/a-1282-2264
Popis: The 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
Databáze: OpenAIRE