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

Abstract 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...

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Uloženo v:
Hlavní autoři: Julia Han, Terry Jo Bichell, Stephanie Golden, Irina Anselm, Susan Waisbren, Carlos A. Bacino, Sarika U. Peters, Lynne M. Bird, Virginia Kimonis
Médium: Artigo
Jazyk:Inglês
Vydáno: BMC 2019-10-01
Edice:Orphanet Journal of Rare Diseases
Témata:
Angelman syndrome
Deletion
Methylation
Silencing
Methyl donors
Betaine
On-line přístup:http://link.springer.com/article/10.1186/s13023-019-1216-0
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