P016: Expanded clinical phenotype and the role of untargeted metabolomics analysis in confirming the diagnosis of sodium-dependent multivitamin transporter deficiency
| Autor: | Ameya Walimbe, Emily Waskow, Laura Mackay, Charul Gijavanekar, Marcus Miller, Sarah Elsea, Fernando Scaglia |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2024 |
| Předmět: | |
| Zdroj: | Genetics in Medicine Open, Vol 2, Iss , Pp 100893- (2024) |
| Druh dokumentu: | article |
| ISSN: | 2949-7744 |
| DOI: | 10.1016/j.gimo.2024.100893 |
| Databáze: | Directory of Open Access Journals |
| Externí odkaz: |
|