Published 2014
| Version v1.0.0
Journal Article
Open
Riboflavin in Brown-Vialetto-Van Laere Syndrome
Creators
Abstract
Investigators at Great Ormond Street Hospital, London, UK, and multiple centers internationally report the response to high-dose oral riboflavin therapy in 18 patients from 13 families with mutations in SLC5ZA2, encoding riboflavin transporter RTVT2, a new causative gene for Brown-Vialetto-Van Laere syndrome (BVVLS), a progressive neurodegenerative disorder leading to death in childhood.Files
PNB-2014-28-3-8.pdf
Files
(96.0 kB)
| Name | Size | Download all |
|---|---|---|
|
md5:64c58144f71d9d20e88c5900579fab60
|
96.0 kB | Preview Download |
Additional details
Identifiers
- Other
- PNB-2014-28-3-8
Dates
- Created
-
2014When the item was originally created.