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Article

Inherited ADAMTS13 deficiency (Upshaw-Schulman syndrome): a short review.

Thrombosis research - 1 Dec 2014

Pérez-Rodríguez Almudena, Lourés Esther, Rodríguez-Trillo Ángela, Costa-Pinto Joana, García-Rivero Aránzazu, Batlle-López Ana, Batlle Javier, López-Fernández María Fernanda

Abstract excerpt

Congenital thrombotic thrombocytopenic purpura (TTP), also known as Upshaw-Schulman syndrome, is associated with an inherited deficiency of ADAMTS13, a von Willebrand factor-cleaving protease. It is a rare, life-threatening disorder characterized by thrombocytopenia, hemolytic anemia, neurological symptoms, renal dysfunction, and fever resulting from formation of platelet thrombi within the microvasculature....

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Source

Identifiers

PMID: 25242241
DOI: 10.1016/j.thromres.2014.09.004

Genes

ADAMTS13

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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