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Pyridoxine effects on ornithine ketoacid transaminase activity in fibroblasts from carriers of two forms of gyrate atrophy of the choroid and retina.

Gyrate atrophy of the choroid and retina that is due to ornithine ketoacid transaminase (OKT) deficiency is an autosomal recessive disorder. Fibroblasts from heterozygotes for the pyridoxine-responsive variant as well as those for the pyridoxine-nonresponsive variant contain intermediate levels of O...

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Detalhes bibliográficos
Main Authors: Shih, V E, Mandell, R, Berson, E L
Formato: Artigo
Idioma:Inglês
Publicado em: 1988
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1715599/
https://ncbi.nlm.nih.gov/pubmed/3195590
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