Determination of new biomarkers for diagnosis of pyridoxine dependent epilepsy in human plasma and urine by liquid chromatography-mass spectrometry
We set-up and validated a reliable method and confirmed its clinical applicability on real samples from PDE patients. This method could be used as routine test for the diagnosis and monitoring of PDE.
Authors
- Renzo Guerrini (ORCID: https://orcid.org/0000-0002-7272-7079)
- Giancarlo la Marca (ORCID: https://orcid.org/0000-0003-3319-7260)
- Roberta Damiano (ORCID: https://orcid.org/0000-0002-0150-728X)
- Alessandra Bettiol (ORCID: https://orcid.org/0000-0002-2292-1412)
- Serena Gasperini (ORCID: https://orcid.org/0000-0001-8743-4407)
- Maria Della Bona
- Elena Procopio
Institutions
- Azienda Ospedaliera San Gerardo (IT)
- Meyer Children's Hospital (IT)
- University of Florence (IT)
Publication Details
- Journal
- Clinica Chimica Acta
- Published
- 2024-12-25
- DOI
- https://doi.org/10.1016/j.cca.2024.120111
- Citations
- 2
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.76
Funders
- European Commission
- Regione Toscana
- Horizon 2020 Framework Programme