Evidence for effect of l-serine, a novel therapy for GRIN2B-related neurodevelopmental disorder.
- 2023-03
- Observational
- Molecular genetics and metabolism 138(3)
- B den Hollander
- A R J Veenvliet
- M Rothuizen-Lindenschot
- P van Essen
- G Peters
- A Santos-Gómez
- M Olivella
- X Altafaj
- M M Brands
- B A W Jacobs
- C D van Karnebeek
- PubMed: 36758276
- DOI: 10.1016/j.ymgme.2023.107523
- Low evidence
- Clinical
improvement in psychomotor development and cognitive functioning was observed after 12 months (PRPP mastery score 10% at baseline, 78% at twelve months)
- Effect
- Beneficial
- Effect size
- Large
- Dose
- 500 mg/kg/day in 4 doses