Literature DB >> 7171757

Gyrate atrophy of the choroid and retina: clinical and biochemical heterogeneity and response to vitamin B6.

R G Weleber, M K Wirtz, N G Kennaway.   

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Year:  1982        PMID： 7171757

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN： 0547-6844


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  6 in total

1.  Gyrate atrophy of the choroid and retina: characterization of mutant ornithine aminotransferase and mechanism of response to vitamin B6.

Authors:  N G Kennaway; L Stankova; M K Wirtz; R G Weleber
Journal:  Am J Hum Genet       Date:  1989-03       Impact factor: 11.025

2.  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

3.  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

4.  Nonsense-codon mutations of the ornithine aminotransferase gene with decreased levels of mutant mRNA in gyrate atrophy.

Authors:  Y Mashima; A Murakami; R G Weleber; N G Kennaway; L Clarke; T Shiono; G Inana
Journal:  Am J Hum Genet       Date:  1992-07       Impact factor: 11.025

5.  First reported cases of gyrate atrophy of the choroid from Nepal.

Authors:  Sachet Prabhat Shrestha; Reema Arora; Rajesh Pradhan; Subramaniam Bhatt
Journal:  BMJ Case Rep       Date:  2010-11-29

6.  Heterogeneity and complementation analysis of fibroblasts from vitamin B6 responsive and non-responsive patients with gyrate atrophy of the choroid and retina.

Authors:  M K Wirtz; N G Kennaway; R G Weleber
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982
  6 in total

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