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Article

Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid.

American journal of medical genetics. Part A - 1 Aug 2010

Peters Sarika U, Bird Lynne M, Kimonis Virginia, Glaze Daniel G, Shinawi Lina M, Bichell Terry Jo, Barbieri-Welge Rene, Nespeca Mark, Anselm Irina, Waisbren Susan, Sanborn Erica, Sun Qin, O'Brien William E, Beaudet Arthur L, Bacino Carlos A

Abstract excerpt

Angelman syndrome (AS) is caused by reduced or absent expression of the maternally inherited ubiquitin protein ligase 3A gene (UBE3A), which maps to chromosome 15q11-q13. UBE3A is subject to genomic imprinting in neurons in most regions of the brain. Expression of UBE3A from the maternal chromoso...

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Identifiers

PMID: 20635355
DOI: 10.1002/ajmg.a.33509
PMCID: PMC3172130

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20635355-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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