Inclusion of pyridoxine dependent epilepsy in expanded newborn screening programs by tandem mass spectrometry: set up of first and second tier tests
The first-line and second-tier tests developed in this study highlight the potential for including PDE in the NBS panel, early diagnosis and prompt precision treatment initiation.
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)
- Maria Della Bona
- Elena Procopio
Institutions
- Meyer Children's Hospital (IT)
- University of Florence (IT)
Publication Details
- Journal
- Clinical Chemistry and Laboratory Medicine (CCLM)
- Published
- 2025-02-04
- DOI
- https://doi.org/10.1515/cclm-2024-1230
- Citations
- 3
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 3.96