Literature DB >> 588272

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

J J O'Donnell, R P Sandman, S R Martin.   

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Year:  1977        PMID: 588272     DOI: 10.1016/0006-291x(77)90170-x

Source DB:  PubMed          Journal:  Biochem Biophys Res Commun        ISSN: 0006-291X            Impact factor:   3.575


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  16 in total

1.  Inheritance of ornithine aminotransferase gene, mRNA, and enzyme defect in a family with gyrate atrophy of the choroid and retina.

Authors:  Y Hotta; N G Kennaway; R G Weleber; G Inana
Journal:  Am J Hum Genet       Date:  1989-03       Impact factor: 11.025

2.  Localization of the ornithine aminotransferase gene and related sequences on two human chromosomes.

Authors:  V Ramesh; R Eddy; G A Bruns; V E Shih; T B Shows; J F Gusella
Journal:  Hum Genet       Date:  1987-06       Impact factor: 4.132

3.  Gyrate atrophy of the choroid and retina: assignment of the ornithine aminotransferase structural gene to human chromosome 10 and mouse chromosome 7.

Authors:  J J O'Donnell; K Vannas-Sulonen; T B Shows; D R Cox
Journal:  Am J Hum Genet       Date:  1988-12       Impact factor: 11.025

4.  Presence of ornithine ketoacid aminotransferase in human ocular tissues.

Authors:  T Shiono; S Hayasaka; K Mizuno
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1982       Impact factor: 3.117

5.  Clinical research methodology in ophthalmology.

Authors:  M I Kaiser-Kupfer
Journal:  Trans Am Ophthalmol Soc       Date:  1980

6.  Treatment of gyrate atrophy of the choroid and retina with low arginine diet.

Authors:  R R McInnes; S A Arshinoff; L Bell; C McCulloch
Journal:  Trans Am Ophthalmol Soc       Date:  1980

7.  Gyrate atrophy of the choroid and retina with hyperornithinemia: characterization of mutant liver L-ornithine:2-oxoacid aminotransferase kinetics.

Authors:  I Sipilä; O Simell; J J O'Donnell
Journal:  J Clin Invest       Date:  1981-06       Impact factor: 14.808

8.  Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy.

Authors:  V Ramesh; A I McClatchey; N Ramesh; L A Benoit; E L Berson; V E Shih; J F Gusella
Journal:  Proc Natl Acad Sci U S A       Date:  1988-06       Impact factor: 11.205

9.  Decreased transport of ornithine across the inner mitochondrial membrane as a cause of hyperornithinaemia.

Authors:  F A Hommes; C K Ho; R A Roesel; M E Coryell; B A Gordon
Journal:  J Inherit Metab Dis       Date:  1982       Impact factor: 4.982

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

Authors:  J J O'Donnell; I Sipilä; A Vannas; R Sandman; K Vannas-Sulonen
Journal:  Int Ophthalmol       Date:  1981-08       Impact factor: 2.031

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