Literature DB >> 917049

Gyrate atrophy of choroid and retina: deficient activity of ornithine ketoacid aminotransferase in cultured skin fibroblasts.

N G Kennaway, R G Weleber, N R Buist.   

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Year:  1977        PMID: 917049     DOI: 10.1056/nejm197711242972116

Source DB:  PubMed          Journal:  N Engl J Med        ISSN: 0028-4793            Impact factor:   91.245


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  9 in total

1.  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

2.  Gyrate atrophy of the choroid and retina: amino acid metabolism and correction of hyperornithinemia with an arginine-deficient diet.

Authors:  D Valle; M Walser; S W Brusilow; M Kaiser-Kupfer
Journal:  J Clin Invest       Date:  1980-02       Impact factor: 14.808

3.  Clinical research methodology in ophthalmology.

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

4.  The ornithine aminotransferase gene in gyrate atrophy of the retina: analysis of expression and gross structure of this gene in cultured fibroblasts.

Authors:  J D Shull; H C Pitot
Journal:  In Vitro Cell Dev Biol       Date:  1989-10

5.  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

6.  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

7.  Gyrate atrophy of the choroid and retina with hyperornithinemia: biochemical and histologic studies and response to vitamin B6.

Authors:  N G Kennaway; R G Weleber; N R Buist
Journal:  Am J Hum Genet       Date:  1980-07       Impact factor: 11.025

Review 8.  Gyrate atrophy of the choroid and retina. Approaches to therapy.

Authors:  R G Weleber; N G Kennaway; N R Buist
Journal:  Int Ophthalmol       Date:  1981-08       Impact factor: 2.031

9.  REP1 deficiency causes systemic dysfunction of lipid metabolism and oxidative stress in choroideremia.

Authors:  Dulce Lima Cunha; Rose Richardson; Dhani Tracey-White; Alessandro Abbouda; Andreas Mitsios; Verena Horneffer-van der Sluis; Panteleimon Takis; Nicholas Owen; Jane Skinner; Ailsa A Welch; Mariya Moosajee
Journal:  JCI Insight       Date:  2021-05-10
  9 in total

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