P016: Expanded clinical phenotype and the role of untargeted metabolomics analysis in confirming the diagnosis of sodium-dependent multivitamin transporter deficiency
Ameya Walimbe,
Emily Waskow,
Laura Mackay,
Charul Gijavanekar,
Marcus Miller,
Sarah Elsea,
Fernando Scaglia
Affiliations
Ameya Walimbe
Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, Texas Children’s Hospital, Houston, TX
Emily Waskow
Texas Children’s Hospital, Houston, TX, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX
Laura Mackay
Department of Pediatrics, UT Southwestern, Dallas, TX
Charul Gijavanekar
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX
Marcus Miller
Indiana University School of Medicine, Indianapolis, IN
Sarah Elsea
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX
Fernando Scaglia
Texas Children’s Hospital, Houston, TX, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, Hong Kong SAR, China