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Article

Hereditary Thrombotic Thrombocytopenic Purpura in a 9-Month-old: Diagnosing and Managing an Ultra-rare Disorder.

Journal of pediatric hematology/oncology - 1 May 2021

Wyatt Kirk D, Kohorst Mira A, Coon Lea M, Hurley Rachel M, van Dorland Hendrika Anette, Arndt Carola A S

Abstract excerpt

Hereditary thrombotic thrombocytopenic purpura is an ultra-rare disorder caused by biallelic mutations in the ADAMTS13 gene. Because it can be difficult to diagnose, plasma ADAMTS13 activity assessment should be considered in patients with thrombocytopenia, anemia, and schistocytes on peripheral blood smear. We present the diagnostic evaluation of a patient with hereditary thrombotic thrombocytopenic purpura....

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Identifiers

PMID: 32496441
DOI: 10.1097/MPH.0000000000001830

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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