Gyrate atrophy of the retina and choroid
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James J. O'Donnell; Ilkka Sipilä; Antti Vannas; Robert Sandman; Kaarina Vannas-S
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Article
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1981
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Springer Netherlands
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English
⚖ 463 KB
We report two methods for potential prenatal diagnosis of gyrate atrophy of the retina and choroid caused by an inborn error of ornithine aminotransferase activity. A high pressure liquid chromatography assay measures ornithine aminotransferase accurately and directly in cultured amniotic fluid cell