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- W2045646941 abstract "Hereditary thrombotic thrombocytopenic purpura (TTP) is a rare disorder characterized by occlusive microvascular thrombosis, consumptive thrombocytopenia, and microangiopathic hemolytic anemia. Homozygous or compound heterozygous mutations in the ADAMTS13 gene result in a congenital severe ADAMTS13 deficiency and subsequent accumulation of ultra-large von Willebrand factor multimers, which tend to form platelet thrombi in the microcirculation. We report a first case of congenital TTP on the African continent with a new, homozygous mutation in the metalloprotease domain of ADAMTS13. An initially oligo-symptomatic presentation was followed by acute exacerbation with ischemic stroke and acute renal failure highlighting the severity of this syndrome." @default.
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- W2045646941 date "2008-04-29" @default.
- W2045646941 modified "2023-09-26" @default.
- W2045646941 title "A first case of congenital TTP on the African continent due to a new homozygous mutation in the catalytic domain of ADAMTS13" @default.
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- W2045646941 doi "https://doi.org/10.1007/s00277-008-0496-6" @default.
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