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https://repository.monashhealth.org/monashhealthjspui/handle/1/58024| Title: | Lifesaving Diagnosis Through Prenatal Genomic Sequencing. | Authors: | Fennell A.P. ;Roscioli T.;Buckley M.;Horton A.E. ;Long S. ;Pharande P.;Clucas L.M. | Monash Health Department(s): | Genetics Paediatric - General Paediatrics |
Issue Date: | 14-Apr-2026 | Copyright year: | 2025 | Publisher: | Lippincott Williams and Wilkins | Place of publication: | United States | Publication information: | Obstetrical and Gynecological Survey. 80(12) (pp 745-747), 2025. Date of Publication: 01 Dec 2025. | Journal: | Obstetrical and Gynecological Survey | Abstract: | (Abstracted from N Engl J Med 2025;393(1), doi:10.1056/NEJMc2506080) Congenital thrombotic thrombocytopenic purpura (TTP) is a rare thrombotic microangiopathy caused by deficiency of the ADAMTS13 protein. Without a functional version of this enzyme, ultralarge von Willebrand factors accumulate inside small vessels, leading to early-onset, potentially life-threatening complications including hemolytic anemia, thrombocytopenia, and end-organ damage.Copyright © 2025 Wolters Kluwer Health, Inc. All rights reserved. | DOI: | https://dx.doi.org/10.1097/OGX.0000000000001474 | URI: | https://repository.monashhealth.org/monashhealthjspui/handle/1/58024 | Type: | Article |
| Appears in Collections: | Articles |
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