ArticleResearch and practice in thrombosis and haemostasis2020
Bleeding risks for uncharacterized platelet function disorders.
Article in Research and practice in thrombosis and haemostasis, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 18 citations in OpenAlex.
- Investigator-Led Research to Improve the Diagnostic Assessment of Platelet Function Disorders: Reflections on the Challenges and Rewards.International journal of laboratory hematology · 2026Review
- When it's not Glanzmann thrombasthenia or Bernard-Soulier syndrome: diagnosing other qualitative platelet disorders.Hematology. American Society of Hematology. Education Program · 2025Review
- Hereditary Hematopoietic Malignancies: Considerations for Optimizing Diagnosis and Management.Current oncology reports · 2025Review
- Postural orthostatic tachycardia syndrome in post-COVID-19 long-hauler patients is associated with platelet storage pool deficiency.Frontiers in medicine · 2025Article
- Advances in Platelet-Dysfunction Diagnostic Technologies.Biomolecules · 2024Review
- Association of laboratory test results with the bleeding history in patients with inherited platelet function disorders (the Bleeding Assesment Tool - LABoratory tests substudy): communication from the Platelet Physiology ISTH-SSC.Research and practice in thrombosis and haemostasis · 2024Article
- Article
- Germline and somatic drivers in inherited hematologic malignancies.Frontiers in oncology · 2023Review
- Thrombin generation abnormalities in commonly encountered platelet function disorders.International journal of laboratory hematology · 2021Article
- Bleeding risks for uncharacterized platelet function disorders.Research and practice in thrombosis and haemostasis · 2020Article
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe bleeding risks for nonsyndromic platelet function disorders (PFDs) that impair aggregation responses and/or cause dense granule deficiency (DGD) are uncertain.
objectivesOur goal was to quantify bleeding risks for a cohort of consecutive cases with uncharacterized PFD.
methodsSequential cases with uncharacterized PFDs that had reduced maximal aggregation (MA) with multiple agonists and/or nonsyndromic DGD were invited to participate along with additional family members to reduce bias. Index cases were further evaluated by exome sequencing, with analysis of
resultsParticipants with uncharacterized PFD (n = 37; 23 index cases) had impaired aggregation function (70%), nonsyndromic DGD (19%) or both (11%), unlike unaffected relatives. Probable pathogenic
conclusionsPFDs that impair MA and/or cause nonsyndromic DGD have significantly increased bleeding risks, and some symptoms are more common in those with more severe DGD or impaired collagen aggregation.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.