Novel insights into antithrombin deficiency enabled by mass spectrometry-based precision diagnostics
The qualitative and quantitative mass spectrometry-based AT-test can serve as a platform for investigating the molecular basis of the clinical heterogeneity of ATD. This "precision diagnostics" approach for ATD can lower diagnostic uncertainty and modernize the ATD diagnostic and clinical pathways.
Authors
- Javier Corral (ORCID: https://orcid.org/0000-0003-0288-1107)
- Christa M. Cobbaert (ORCID: https://orcid.org/0000-0003-3565-1404)
- María Eugenia de la Morena‐Barrio (ORCID: https://orcid.org/0000-0001-7426-4947)
- Mirjam Kruijt (ORCID: https://orcid.org/0000-0002-4520-7385)
- L. Renee Ruhaak (ORCID: https://orcid.org/0000-0003-3737-3807)
Institutions
- Leiden University Medical Center (NL)
- Centro Regional de Hemodonación (ES)
- Universidad de Murcia (ES)
Publication Details
- Journal
- Journal of Thrombosis and Haemostasis
- Published
- 2024-10-17
- DOI
- https://doi.org/10.1016/j.jtha.2024.10.005
- Citations
- 5
- Primary Topic
- Analytical Methods in Pharmaceuticals
- Type
- article
- Field-Weighted Citation Impact
- 1.18
Funders
- Fundación Séneca
- Ministerio de Ciencia, Innovación y Universidades
- European Commission
- HORIZON EUROPE Framework Programme
- Instituto de Salud Carlos III