Please use this identifier to cite or link to this item: https://repository.monashhealth.org/monashhealthjspui/handle/1/58024
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dc.contributor.authorFennell A.P.-
dc.contributor.authorRoscioli T.-
dc.contributor.authorBuckley M.-
dc.contributor.authorHorton A.E.-
dc.contributor.authorLong S.-
dc.contributor.authorPharande P.-
dc.contributor.authorClucas L.M.-
dc.date.accessioned2026-04-26T23:40:38Z-
dc.date.available2026-04-26T23:40:38Z-
dc.date.copyright2025-
dc.date.issued2026-04-14en
dc.identifier.citationObstetrical and Gynecological Survey. 80(12) (pp 745-747), 2025. Date of Publication: 01 Dec 2025.-
dc.identifier.urihttps://repository.monashhealth.org/monashhealthjspui/handle/1/58024-
dc.description.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.-
dc.publisherLippincott Williams and Wilkins-
dc.relation.ispartofObstetrical and Gynecological Survey-
dc.titleLifesaving Diagnosis Through Prenatal Genomic Sequencing.-
dc.typeArticle-
dc.identifier.affiliationGenetics-
dc.identifier.affiliationPaediatric - General Paediatrics-
dc.identifier.doihttps://dx.doi.org/10.1097/OGX.0000000000001474-
dc.publisher.placeUnited States-
dc.identifier.affiliationmh(Fennell, Roscioli, Buckley, Horton, Long, Pharande, Clucas) Monash Genetics, Melbourne, Victoria; Monash Children's Hospital, Melbourne, Victoria-
item.grantfulltextnone-
item.fulltextNo Fulltext-
item.openairetypeArticle-
item.cerifentitytypePublications-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
crisitem.author.deptGenetics-
crisitem.author.deptCardiology (MonashHeart & Victorian Heart Institute)-
crisitem.author.deptPaediatric - Cardiology-
crisitem.author.deptPsychology-
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