P016: Expanded clinical phenotype and the role of untargeted metabolomics analysis in confirming the diagnosis of sodium-dependent multivitamin transporter deficiency

Bibliographic Details
Main Authors: Ameya Walimbe, Emily Waskow, Laura Mackay, Charul Gijavanekar, Marcus Miller, Sarah Elsea, Fernando Scaglia
Format: Article
Language:English
Published: Elsevier 2024-01-01
Series:Genetics in Medicine Open
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774424000396