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Gyrate atrophy of the choroid and retina: 3 cases in one Italian family

✍ Scribed by A. Fois; P. Borgogni; M. Cioni; G. M. S. Mancini; M. Molinelli; M. Pizzetti; A. M. Bardelli; L. Biangini; L. Barberi; C. Malpassi; E. Harms; W. J. Kleijer


Publisher
Springer
Year
1986
Tongue
English
Weight
175 KB
Volume
9
Category
Article
ISSN
0141-8955

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Gyrate atrophy of the retina and choroid
✍ James J. O'Donnell; Ilkka SipilΓ€; Antti Vannas; Robert Sandman; Kaarina Vannas-S πŸ“‚ Article πŸ“… 1981 πŸ› Springer Netherlands 🌐 English βš– 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