Additional file 4 of Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center
Supplementary Material 4: Heterozygotes for mutations in one or more of the analyzed genes that were consistent with the biochemical profile indicative of NBS positivity (with no evidence of maternal vitamin B12 deficiency for the MMA/C3 group) (HET, N = 45).
Institutions
- Federico II University Hospital (IT)
- Scuola Superiore Meridionale (IT)
- Telethon Institute Of Genetics And Medicine (IT)
- University of Naples Federico II (IT)
Publication Details
- Journal
- Figshare
- Published
- 2025-01-01
- DOI
- https://doi.org/10.6084/m9.figshare.28279633
- Primary Topic
- Folate and B Vitamins Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00