ArticleEJIFCC2016
Deficiencies of the Natural Anticoagulants - Novel Clinical Laboratory Aspects of Thrombophilia Testing.
Article in EJIFCC, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 10 citations in OpenAlex.
- Comparison of antithrombin activity assays in detection of patients with heparin binding site antithrombin deficiency: systematic review and meta-analysis.Scientific reports · 2023Pooled it
- Analytical validity of the INNOVANCE Antithrombin assay for the measurement of antithrombin activity at fitusiran clinical decision points.Research and practice in thrombosis and haemostasis · 2026Article
- Global Comparative Antithrombin Field Study: Impact of Laboratory Assay Variability on the Assessment of Antithrombin Activity Measurement at Fitusiran Clinical Decision-Making Points.Haemophilia : the official journal of the World Federation of Hemophilia · 2025Article
- Clinical Investigation of Hereditary and Acquired Thrombophilic Factors in Patients with Venous and Arterial Thromboembolism.International journal of general medicine · 2023Article
- Detection of Unknown and Rare Pathogenic Variants in Antithrombin, Protein C and Protein S Deficiency Using High-Throughput Targeted Sequencing.Diagnostics (Basel, Switzerland) · 2022Article
- Investigation of the Differences in Antithrombin to Heparin Binding among Antithrombin Budapest 3, Basel, and Padua Mutations by Biochemical and In Silico Methods.Biomolecules · 2021Article
- Age and Origin of the Founder Antithrombin Budapest 3 (p.Leu131Phe) Mutation; Its High Prevalence in the Roma Population and Its Association With Cardiovascular Diseases.Frontiers in cardiovascular medicine · 2020Article
- Plasma phenotypes of protein S Lys196Glu and protein C Lys193del variants prevalent among young Japanese women.Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis · 2019Article
- Hereditary Antithrombin Deficiency in Pediatric Patients: Pathophysiology, Clinical Features, Diagnosis, and Antithrombin Replacement Therapy.Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/HemostasisReview
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Venous thrombosis is a typical common complex disease as acquired and genetic causes play a role in its development. The different "loss of function" mutations of the natural anticoagulant system lead to antithrombin (AT), protein C (PC) and protein S (PS) deficiencies. Since thrombophilia testing has high cost and it has several methodological issues (analytical, pre-analytical), which makes the interpretation of results difficult, considerations should be made on the indications of testing, on the parameters that are measured and on the best available method to use. The latest guideline on clinical and laboratory management of thrombophilia kept the relatively old laboratory recommendations unchanged. This is partly because of the existence of unresolved problems with the laboratory tests used for diagnosis. Based on the literature and our previous research here we discuss the unresolved problems, the recently raised questions and issues concerning AT, PC and PS laboratory diagnosis and summarize the recent findings in molecular genetic investigations.
Indexed as
Identifiers
27683526PMC4975229W2551286379What OpenQuestion holds
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.