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 |
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Rok vydání: | 2020 |
Předmět: |
Pediatrics
medicine.medical_specialty Pregnancy business.industry Ischemic strokes Thrombotic thrombocytopenic purpura Hematology 030204 cardiovascular system & hematology medicine.disease Adamts13 activity ADAMTS13 03 medical and health sciences 0302 clinical medicine Blood Disorder hemic and lymphatic diseases Clinical diagnosis medicine business 030215 immunology Cohort study |
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 |
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