Metabolic follow-up of a Croatian patient with gyrate atrophy and a new mutation in the OAT gene: a case report

Gyrate atrophy (GA) of the choroid and retina is a rare autosomal recessive disorder that occurs due to deficiency of the mitochondrial enzyme ornithine aminotransferase (OAT). Hyperornithinemia causes degeneration of the retina with symptoms like myopia, reduced night vision and progressive vision...

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Detalles Bibliográficos
Autores principales: Zekušić, Marija, Škaričić, Ana, Fumić, Ksenija, Rogić, Dunja, Žigman, Tamara, Petković Ramadža, Danijela, Vukojević, Nenad, Rüfenacht, Véronique, Uroić, Valentina, Barić, Ivo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Croatian Society of Medical Biochemistry and Laboratory Medicine 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6214690/
https://www.ncbi.nlm.nih.gov/pubmed/30429681
http://dx.doi.org/10.11613/BM.2018.030801

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