Gyrus atrophy of the choroid and retina. A case presentation

• Asıl Yazarlar: Leopoldo Garduno Vieyra (Yazar), Raul Rua Martinez (Yazar), Natalia Rodriguez Mena (Yazar), Gladys Villalobos Alonso (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Ukrainian Society of Ophthalmologists, 2023-04-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

Gyrus atrophy is a rare autosomal recessive hereditary disease secondary to a mutation of the OAT gene on chromosome 10 which results in a deficiency of the mitochondrial enzyme ornithine aminotransferase that causes a 20-fold increase in serum concentrations of the amino acid ornithine. The disease...