Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and retina.

Gyrate atrophy of the choroid and retina is a chorioretinal degeneration associated with hyperornithinemia with an autosomal recessive mode of inheritance. Cultured skin fibroblasts from five affected patients showed a virtual absence of ornithine ketoacid transaminase (OKT) (L-ornithine:2-oxoacid a...

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Detalles Bibliográficos
Main Authors: Shih, V E, Berson, E L, Mandell, R, Schmidt, S Y
Formato: Artigo
Idioma:Inglês
Publicado: 1978
Assuntos:
Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1685558/
https://ncbi.nlm.nih.gov/pubmed/655164
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