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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Han, Julia, Bichell, Terry Jo, Golden, Stephanie, Anselm, Irina, Waisbren, Susan, Bacino, Carlos A., Peters, Sarika U., Bird, Lynne M., Kimonis, Virginia
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6806546/
https://ncbi.nlm.nih.gov/pubmed/31640736
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1216-0
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados