Ketogenic diet in a patient with Angelman syndrome
β Scribed by Athanasios Evangeliou; Vai Doulioglou; Katerina Haidopoulou; Maria Aptouramani; Martha Spilioti; Georgios Varlamis
- Book ID
- 108972982
- Publisher
- John Wiley and Sons
- Year
- 2010
- Tongue
- English
- Weight
- 573 KB
- Volume
- 52
- Category
- Article
- ISSN
- 1328-8067
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Deficiency of methylenetetrahydrofolate reductase (MTHFR) is associated with a variable phenotype that includes mental retardation, gait abnormalities, and seizures. Many of the same clinical findings are also seen in patients with Angelman syndrome. We report on a patient with MTHFR deficiency who
## Abstract We describe a new ocular finding, retinochoroidal atrophy (RCA), associated with optic disk paleness in two adult patients with Angelman syndrome (AS) due to maternal 15q11β13 deletion. The ocular involvement described in children with AS consists iris and choroids hypopigmentation due