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12 p, 926.4 KB Combined study of 13 and complement genes in the diagnosis of thrombotic microangiopathies using next-generation sequencing / Fidalgo, Teresa (Centro Hospitalar e Universitário de Coimbra) ; Martinho, Patrícia (Centro Hospitalar e Universitário de Coimbra) ; Pinto, Catarina S. (Centro Hospitalar e Universitário de Coimbra) ; Oliveira, Ana C. (Centro Hospitalar e Universitário de Coimbra) ; Salvado, Ramon (Centro Hospitalar e Universitário de Coimbra) ; Borràs, Nina (Hospital Universitari Vall d'Hebron. Institut de Recerca ) ; Coucelo, Margarida (Centro Hospitalar e Universitário de Coimbra) ; Manco, Licínio (University of Coimbra) ; Maia, Tabita (Centro Hospitalar e Universitário de Coimbra) ; Mendes, M. João (Centro Hospitalar e Universitário de Coimbra) ; Del Orbe Barreto, Rafael (BioCruces Health Research Institute) ; Corrales, Irene (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Vidal, Francisco (Hospital Universitari Vall d'Hebron. Institut de Recerca ) ; Ribeiro, M. Letícia (Centro Hospitalar e Universitário de Coimbra) ; Universitat Autònoma de Barcelona
The 2 main forms of thrombotic microangiopathy () are thrombotic thrombocytopenic purpura () and atypical hemolytic uremic syndrome (). Deficiency of 13 and dysregulation of the complement pathway result in and , respectively; however, overlap of their clinical characteristics makes differential diagnosis challenging. [...]
2017 - 10.1002/rth2.12016
Research and Practice in Thrombosis and Haemostasis, Vol. 1 (june 2017) , p. 69-80  

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