A neonate with ornithine aminotransferase deficiency; insights on the hyperammonemia-associated biochemical phenotype of gyrate atrophy()

Gyrate atrophy of the choroid and retina (GACR) secondary to deficiency of ornithine aminotransferase (OAT) is a rare autosomal recessive metabolic disorder usually diagnosed in childhood when patients develop myopia and a characteristic retinal degeneration accompanied by hyperornithinemia. Plasma...

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Detalles Bibliográficos
Autores principales: Kaczmarczyk, Aneta, Baker, Mark, Diddle, Julianna, Yuzyuk, Tatiana, Valle, David, Lindstrom, Kristin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9248225/
https://www.ncbi.nlm.nih.gov/pubmed/35782604
http://dx.doi.org/10.1016/j.ymgmr.2022.100857

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