{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,14]],"date-time":"2026-03-14T17:42:23Z","timestamp":1773510143197,"version":"3.50.1"},"reference-count":19,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2025,4,1]],"date-time":"2025-04-01T00:00:00Z","timestamp":1743465600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,4,1]],"date-time":"2025-04-01T00:00:00Z","timestamp":1743465600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,4,9]],"date-time":"2025-04-09T00:00:00Z","timestamp":1744156800000},"content-version":"vor","delay-in-days":8,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003593","name":"National Council for Scientific and Technological Development","doi-asserted-by":"publisher","award":["43833902018\\u20135"],"award-info":[{"award-number":["43833902018\\u20135"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Hematology, Transfusion and Cell Therapy"],"published-print":{"date-parts":[[2025,4]]},"DOI":"10.1016\/j.htct.2025.103837","type":"journal-article","created":{"date-parts":[[2025,4,28]],"date-time":"2025-04-28T18:30:47Z","timestamp":1745865047000},"page":"103837","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"title":["Clinical and laboratorial characterization of a cohort of patients with hereditary platelet disorders in Brazil"],"prefix":"10.1016","volume":"47","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7881-6689","authenticated-orcid":false,"given":"Let\u00edcia Dalla Vecchia","family":"Grassi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5311-9724","authenticated-orcid":false,"given":"Erica","family":"Okazaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cynthia","family":"Rothschild","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0689-4511","authenticated-orcid":false,"given":"Paula","family":"Villa\u00e7a","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7908-9073","authenticated-orcid":false,"given":"Fernanda Andrade","family":"Orsi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bianca","family":"Stefanello","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.htct.2025.103837_bib0001","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1055\/a-1515-0813","article-title":"Diagnosing inherited platelet disorders: modalities and consequences","volume":"41","author":"Zaninetti","year":"2021","journal-title":"Hamostaseologie"},{"key":"10.1016\/j.htct.2025.103837_bib0002","doi-asserted-by":"crossref","first-page":"337","DOI":"10.3324\/haematol.2020.248153","article-title":"Inherited platelet diseases with normal platelet count: phenotypes, genotypes and diagnostic strategy","volume":"106","author":"Nurden","year":"2021","journal-title":"Haematologica"},{"key":"10.1016\/j.htct.2025.103837_bib0003","doi-asserted-by":"crossref","first-page":"2004","DOI":"10.3324\/haematol.2019.233197","article-title":"Inherited thrombocytopenias: history, advances and perspectives","volume":"105","author":"Nurden","year":"2020","journal-title":"Haematologica"},{"key":"10.1016\/j.htct.2025.103837_bib0004","doi-asserted-by":"crossref","first-page":"259","DOI":"10.5482\/ha12050001","article-title":"Inherited thrombocytopenias: the evolving spectrum","volume":"32","author":"Balduini","year":"2012","journal-title":"Hamostaseologie"},{"key":"10.1016\/j.htct.2025.103837_bib0005","doi-asserted-by":"crossref","DOI":"10.3390\/ijms22094521","article-title":"Inherited platelet disorders: an updated overview","author":"Palma-barqueros","year":"2021","journal-title":"Int J Mol Sci"},{"key":"10.1016\/j.htct.2025.103837_bib0006","doi-asserted-by":"crossref","first-page":"1253","DOI":"10.1111\/jth.14479","article-title":"Curated disease-causing genes for bleeding, thrombotic, and platelet disorders: communication from the SSC of the ISTH","volume":"17","author":"Megy","year":"2019","journal-title":"J Thromb Haemost"},{"key":"10.1016\/j.htct.2025.103837_bib0007","doi-asserted-by":"crossref","first-page":"2127","DOI":"10.1111\/jth.15484","article-title":"Diagnostic approach to the patient with a suspected inherited platelet disorder: who and how to test","volume":"19","author":"Perez Botero","year":"2021","journal-title":"J Thromb Haemost"},{"key":"10.1016\/j.htct.2025.103837_bib0008","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1016\/j.hoc.2019.01.008","article-title":"Inherited platelet disorders: a modern approach to evaluation and treatment","volume":"33","author":"Lambert","year":"2019","journal-title":"Hematol Oncol Clin North Am"},{"key":"10.1016\/j.htct.2025.103837_bib0009","doi-asserted-by":"crossref","first-page":"2063","DOI":"10.1111\/j.1538-7836.2010.03975.x","article-title":"ISTH\/SSC bleeding assessment tool: a standardized questionnaire and a proposal for a new bleeding score for inherited bleeding disorders","volume":"8","author":"Rodeghiero","year":"2010","journal-title":"J Thromb Haemost"},{"key":"10.1016\/j.htct.2025.103837_bib0010","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-014-0213-6","article-title":"Functional and molecular characterization of inherited platelet disorders in the Iberian Peninsula: results from a collaborative study","author":"S\u00e1nchez-Guiu","year":"2014","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.htct.2025.103837_bib0011","doi-asserted-by":"crossref","first-page":"148","DOI":"10.3324\/haematol.2017.171132","article-title":"Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders","volume":"103","author":"Bastida","year":"2018","journal-title":"Haematologica"},{"key":"10.1016\/j.htct.2025.103837_bib0012","doi-asserted-by":"crossref","first-page":"640","DOI":"10.1002\/rth2.12151","article-title":"A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia","volume":"2","author":"Johnson","year":"2018","journal-title":"Res Pract Thromb Haemost"},{"key":"10.1016\/j.htct.2025.103837_bib0013","doi-asserted-by":"crossref","first-page":"555","DOI":"10.3109\/09537104.2016.1143920","article-title":"A diagnostic approach that may help to discriminate inherited thrombocytopenia from chronic immune thrombocytopenia in adult patients","volume":"27","author":"Fiore","year":"2016","journal-title":"Platelets"},{"key":"10.1016\/j.htct.2025.103837_bib0014","doi-asserted-by":"crossref","first-page":"2414","DOI":"10.1182\/bloodadvances.2017010942","article-title":"Misdiagnosis of primary immune thrombocytopenia and frequency of bleeding: lessons from the McMaster ITP Registry","volume":"1","author":"Arnold","year":"2017","journal-title":"Blood Adv"},{"key":"10.1016\/j.htct.2025.103837_bib0015","doi-asserted-by":"crossref","first-page":"1387","DOI":"10.3324\/haematol.2014.105924","article-title":"Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia","volume":"99","author":"Noris","year":"2014","journal-title":"Haematologica"},{"key":"10.1016\/j.htct.2025.103837_bib0016","doi-asserted-by":"crossref","first-page":"967417","DOI":"10.3389\/fped.2022.967417","article-title":"\u201cCHildren with Inherited Platelet disorders Surveillance\u201d (CHIPS) retrospective and prospective observational cohort study by Italian Association of Pediatric Hematology and Oncology (AIEOP)","volume":"10","author":"Lassandro","year":"2022","journal-title":"Front Pediatr"},{"key":"10.1016\/j.htct.2025.103837_bib0017","doi-asserted-by":"crossref","first-page":"732","DOI":"10.1111\/jth.14683","article-title":"Validation of the ISTH\/SSC bleeding assessment tool for inherited platelet disorders: a communication from the Platelet Physiology SSC","volume":"18","author":"Gresele","year":"2020","journal-title":"J Thromb Haemost"},{"key":"10.1016\/j.htct.2025.103837_bib0018","doi-asserted-by":"crossref","first-page":"2127","DOI":"10.1111\/jth.15781","article-title":"Expert opinion on the use of platelet secretion assay for the diagnosis of inherited platelet function disorders: communication from the ISTH SSC Subcommittee on Platelet Physiology","volume":"20","author":"Mezzano","year":"2022","journal-title":"J Thromb Haemost"},{"key":"10.1016\/j.htct.2025.103837_bib0019","doi-asserted-by":"crossref","first-page":"1192","DOI":"10.3324\/haematol.2016.160754","article-title":"Bleeding risk of surgery and its prevention in patients with inherited platelet disorders","volume":"102","author":"Orsini","year":"2017","journal-title":"Haematologica"}],"container-title":["Hematology, Transfusion and Cell Therapy"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2531137925001051?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2531137925001051?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,6,11]],"date-time":"2025-06-11T15:09:41Z","timestamp":1749654581000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2531137925001051"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4]]},"references-count":19,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2025,4]]}},"alternative-id":["S2531137925001051"],"URL":"https:\/\/doi.org\/10.1016\/j.htct.2025.103837","relation":{},"ISSN":["2531-1379"],"issn-type":[{"value":"2531-1379","type":"print"}],"subject":[],"published":{"date-parts":[[2025,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Clinical and laboratorial characterization of a cohort of patients with hereditary platelet disorders in Brazil","name":"articletitle","label":"Article Title"},{"value":"Hematology, Transfusion and Cell Therapy","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.htct.2025.103837","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 Associa\u00e7\u00e3o Brasileira de Hematologia, Hemoterapia e Terapia Celular. Published by Elsevier Espa\u00f1a, S.L.U.","name":"copyright","label":"Copyright"}],"article-number":"103837"}}