A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome

BACKGROUND: Angelman syndrome (AS) is a neurodevelopmental disorder that is caused by maternal genetic deficiency of a gene that encodes E6-AP ubiquitin-protein ligase (gene symbol UBE3A) mapping to chromosome 15q11-q13. AS leads to stiff and jerky gait, excess laughter, seizures, and severe intelle...

Descripción completa

Detalles Bibliográficos
Autores principales: Han, Julia, Bichell, Terry Jo, Golden, Stephanie, Anselm, Irina, Waisbren, Susan, Bacino, Carlos A., Peters, Sarika U., Bird, Lynne M., Kimonis, Virginia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6806546/
https://www.ncbi.nlm.nih.gov/pubmed/31640736
http://dx.doi.org/10.1186/s13023-019-1216-0

Ejemplares similares

Ejemplares similares