Literature DB >> 7298261

Gyrate atrophy of the retina and choroid. Two methods for prenatal diagnosis.

J J O'Donnell, I Sipilä, A Vannas, R Sandman, K Vannas-Sulonen.   

Abstract

We report two methods for 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 cells. The differential incorporation of 14C-ornithine and 3H-leucine into cell protein measures OAT directly but rapidly and simply.

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Year:  1981        PMID： 7298261     DOI： 10.1007/bf00139578

Source DB:  PubMed          Journal:  Int Ophthalmol        ISSN： 0165-5701            Impact factor:   2.031


  14 in total

1.  Prenatal genetic diagnosis in 3000 amniocenteses.

Authors:  M S Golbus; W D Loughman; C J Epstein; G Halbasch; J D Stephens; B D Hall
Journal:  N Engl J Med       Date:  1979-01-25       Impact factor: 91.245

2.  Ornithine-ketoacid transaminase activity in human skin and amniotic fluid cell culture.

Authors:  V E Shih; J D Schulman
Journal:  Clin Chim Acta       Date:  1970-01       Impact factor: 3.786

3.  Deficient L-ornithine: 2-oxoacid aminotransferase activity in cultured fibroblasts from a patient with gyrate atrophy of the retina.

Authors:  J J O'Donnell; R P Sandman; S R Martin
Journal:  Biochem Biophys Res Commun       Date:  1977-11-21       Impact factor: 3.575

4.  A specific enzyme defect in gyrate atrophy.

Authors:  M I Kaiser-Kupfer; D Valle; L A Del Valle
Journal:  Am J Ophthalmol       Date:  1978-02       Impact factor: 5.258

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

Authors:  V E Shih; E L Berson; R Mandell; S Y Schmidt
Journal:  Am J Hum Genet       Date:  1978-03       Impact factor: 11.025

6.  Ocular and biochemical abnormalities in gyrate atrophy of the choroid and retina.

Authors:  E L Berson; S Y Schmidt; V E Shih
Journal:  Ophthalmology       Date:  1978-10       Impact factor: 12.079

7.  Hyperornithinemia and gyrate atrophy of the choroid and retina.

Authors:  J C McCulloch; S A Arshinoff; E B Marliss; J A Parker
Journal:  Ophthalmology       Date:  1978-09       Impact factor: 12.079

8.  Gyrate atrophy of the choroid and retina: deficiency of ornithine aminotransferase in transformed lymphocytes.

Authors:  D Valle; M I Kaiser-Kupfer; L A Del Valle
Journal:  Proc Natl Acad Sci U S A       Date:  1977-11       Impact factor: 11.205

9.  Gyrate atrophy of the retina: inborn error of L-ornithin:2-oxoacid aminotransferase.

Authors:  J J O'Donnell; R P Sandman; S R Martin
Journal:  Science       Date:  1978-04-14       Impact factor: 47.728

10.  Gyrate atrophy of the choroid and retina with reticular pigmentary dystrophy and ornithine-ketoacid-transaminase deficiency.

Authors:  A F Deutman; R C Sengers; J M Trybels
Journal:  Int Ophthalmol       Date:  1978-09       Impact factor: 2.031
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