dc.contributor.author | Tanzer F. | |
dc.contributor.author | Firat M. | |
dc.contributor.author | Alagoz M. | |
dc.contributor.author | Erdogan H. | |
dc.date.accessioned | 2019-07-27T12:10:23Z | |
dc.date.accessioned | 2019-07-28T09:15:16Z | |
dc.date.available | 2019-07-27T12:10:23Z | |
dc.date.available | 2019-07-28T09:15:16Z | |
dc.date.issued | 2011 | |
dc.identifier.issn | 1757790X | |
dc.identifier.uri | https://dx.doi.org/10.1136/bcr.07.2010.3200 | |
dc.identifier.uri | https://hdl.handle.net/20.500.12418/5063 | |
dc.description | BMJ Publishing Group | en_US |
dc.description.abstract | In this report, an 8-year-old girl is presented with the complaint of progressive night blindness. The authors have performed eye funduscopy, which showed chorioretinal atrophy in gyrate shape. A high level of plasma ornithine was determined. Urinary excretion of ornithine as well as lysine and cystine were increased. Patient was treated with high dose pyridoxine supplement (500 mg/dl). The night blindness condition of the patient improved. After 1 month of pyridoxine therapy ornithine level of her plasma was successfully reduced and blindness improved. Copyright 2011 BMJ Publishing Group. All rights reserved. | en_US |
dc.description.sponsorship | Tanzer, F.; Department of Pediatric Metabolism, Cumhuriyet University Medical Faculty, Sivas, Turkey; email: fatostanzer@gmail.com | en_US |
dc.language.iso | eng | en_US |
dc.relation.isversionof | 10.1136/bcr.07.2010.3200 | en_US |
dc.rights | info:eu-repo/semantics/closedAccess | en_US |
dc.title | Gyrate atrophy of the choroid and retina with hyperornithinemia, cystinuria and lysinuria responsive to vitamin B6 | en_US |
dc.type | article | en_US |
dc.relation.journal | BMJ Case Reports | en_US |
dc.contributor.department | Tanzer, F., Department of Pediatric Metabolism, Cumhuriyet University Medical Faculty, Sivas, Turkey -- Firat, M., Department of Pediatric Metabolism, Cumhuriyet University Medical Faculty, Sivas, Turkey -- Alagoz, M., Department of Pediatric Metabolism, Cumhuriyet University Medical Faculty, Sivas, Turkey -- Erdogan, H., Department of Ophthalmology, Cumhuriyet University Medical Faculty, Sivas, Turkey | en_US |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |