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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...
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| Gepubliceerd in: | Orphanet J Rare Dis |
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| Hoofdauteurs: | , , , , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
BioMed Central
2019
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| Onderwerpen: | |
| Online toegang: | 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 |
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