Gyrate atrophy of the choroid and retina
The gene whose mutation causes gyrate atrophy is found on chromosome 10, ... In gyrate atrophy, where OAT function is affected, there is an increase in ...
http://www.ncbi.nlm.nih.gov/disease/GyrateA.html...
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Treatment of gyrate atrophy of the choroid and retina with low ...
In gyrate atrophy the blood ornithine is grossly elevated, due to deficiency of ornithine ketoacid transaminase, which converts ornithine towards glutamic ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=13...
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gyrate atrophy - Genetics Home Reference
Gyrate atrophy of the choroid and retina, which is often shortened to gyrate atrophy, is an inherited disorder characterized by progressive vision loss. ...
http://ghr.nlm.nih.gov/condition=gyrateatrophyofthechoroidan...
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Gyrate atrophy of the choroid and retina: amino acid metabolism ...
Four patients with gyrate atrophy of the choroid and retina were studied, all of whom exhibited the hyperornithinemia characteristic of this disorder. ...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC371375/...
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(gyrate atrophy of the choroid and retina[TIAB]) AND english[la ...
Myopathy with tubular aggregates and gyrate atrophy of the choroid and retina due to hyperornithinaemia. J Neurol Neurosurg Psychiatry. ...
http://ghr.nlm.nih.gov/exit?to=www.ncbi.nlm.nih.gov&vje=7bH4...
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Clinical trials of vitamin B6 and proline supplementation for ...
Five patients with gyrate atrophy of the choroid and retina were examined ... Supplementary proline minimised the progression of gyrate atrophy in the ...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1040584/...
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Gyrate atrophy of the choroid and retina with hyperornithinemia ...
Deficient L-ornithine: 2-oxoacid aminotransferase activity in cultured fibroblasts from a patient with gyrate atrophy of the retina. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=37...
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OAT - ornithine aminotransferase (gyrate atrophy) - Genetics Home ...
More than 60 OAT gene mutations have been found to cause gyrate atrophy of the choroid and retina (often shortened to gyrate atrophy). ...
http://ghr.nlm.nih.gov/gene=oat...
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Gyrate atrophy of the choroid and retina: characterization of ...
The purpose of this study was to characterize the mutant enzyme in nine patients with gyrate atrophy of the choroid and retina associated with ornithine ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=17...
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Progressive, Irreversible Loss of Vision: Gyrate Atrophy of the ...
Gyrate atrophy of the choroid and retina (GA) is a rare, mostly Finnish, autosomal recessive ... by the age of 30 or 40, as the regions of gyrate atrophy
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http://www.lakeforest.edu/images/userImages/eukaryon/Page_71...
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