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Article

Natural history of Upshaw-Schulman syndrome based on ADAMTS13 gene analysis in Japan.

Journal of thrombosis and haemostasis : JTH - 1 Jul 2011

Fujimura Y, Matsumoto M, Isonishi A, Yagi H, Kokame K, Soejima K, Murata M, Miyata T

Abstract excerpt

Upshaw-Schulman syndrome (USS) is an extremely rare hereditary deficiency of ADAMTS13 activity, termed congenital TTP. The clinical signs are usually mild during childhood, often with isolated thrombocytopenia. But their symptoms become more evident when patients have infections or get pregnant. We identified 43 USS-patients in Japan, who ranged in age from early childhood to 79 years of age. Analysing the...

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Identifiers

PMID: 21781265
DOI: 10.1111/j.1538-7836.2011.04341.x

Genes

ADAMTS13

Variants

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Related research

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Natural history of Upshaw-Schulman syndrome based on ADAMTS13 gene analysis in Japan.PMID 21781265Read ↗

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Polymorphisms and mutations of ADAMTS13 in the Japanese population and estimation of the number of patients with Upshaw–Schulman syndromeSemantic proximity Read ↗

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