Genetic aspects in gyrate atrophy of the choroid and retina with hyperornithinaemia.
about
A single amino acid substitution within the mature sequence of ornithine aminotransferase obstructs mitochondrial entry of the precursorHyperprolinaemia and gyrate atrophy of the choroid and retina in members of the same familyPlasma amino-acids in hereditary retinal disease. Ornithine, lysine, and taurine.First reported cases of gyrate atrophy of the choroid from Nepal.Gyrate atrophy of the choroid and retina with hyperornithinemia, cystinuria and lysinuria responsive to vitamin B6.Gyrate atrophy of the choroid and retina: deficiency of ornithine aminotransferase in transformed lymphocytes.Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and retinaGyrate atrophy of the choroid and retina with hyperornithinemia: biochemical and histologic studies and response to vitamin B6Gyrate atrophy of choroid and retina with myopia, cataract and systemic proximal myopathy: A rare case report from rural IndiaA mouse model of gyrate atrophy of the choroid and retina. Early retinal pigment epithelium damage and progressive retinal degeneration.Retinal risks of high-dose ornithine supplements: a review.Short-term correction of arginase deficiency in a neonatal murine model with a helper-dependent adenoviral vector.Gyrate atrophy of the choroid and retina: clinical, ophthalmologic, and biochemical considerations.Treatment of gyrate atrophy of the choroid and retina with low arginine diet.Gyrate atrophy of the choroid and retina with hyper-ornithinemia responsive to vitamin B6: a case report.Forgotten achievements of Polish retinal research in international ophthalmology.Multimodal imaging of foveoschisis and macular pseudohole associated with gyrate atrophy: a family report.Metabolic follow-up of a Croatian patient with gyrate atrophy and a new mutation in the gene: a case report
P2860
Q28297087-557052FF-81BB-4DA1-9F37-27F88641AD79Q33644357-66BC5D16-CB13-4490-A5C5-479BC01AD4E4Q33649634-84CA22CC-E3B3-4729-B7F9-343559243D5FQ34533312-472E0154-EEAA-4D7A-A822-E208C8B132A7Q34713177-4D7C65C3-4491-4DA3-98F9-7098BCFDEC74Q35062416-105A36FC-27D7-43C8-9E52-E7043FA3DC8DQ35202683-92869D26-4291-4579-994F-1F01853E9E76Q35203976-F7E72AB2-6993-48D4-A077-D29E1D0B8E5DQ36579680-4C7151B9-F044-4556-BCE3-7B4B8FF50DEEQ37356365-D48C2038-26B5-4EE6-B9EE-8223405E1E33Q37902264-9A56AB5C-7A1B-4B67-A0BA-B17ECA51A512Q39508670-5BFB0152-544E-48E5-80CD-14E98D4D1E36Q40536554-B088E205-C635-417A-95E3-B715F8165F0CQ40558621-7F2C6F7F-0309-475F-BB7A-710B2E8BA59BQ42560106-852E27C1-4611-43BB-A9D3-B2B8D4A75137Q48853793-19530029-AE67-4A3A-AC2C-BDB2FFED92DCQ52323281-029CC48F-E763-4636-B6D4-5250D90323E9Q59133714-5BEAE5D3-A010-405F-AA5F-B344114DDCA0
P2860
Genetic aspects in gyrate atrophy of the choroid and retina with hyperornithinaemia.
description
1974 nî lūn-bûn
@nan
1974 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1974 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1974年の論文
@ja
1974年論文
@yue
1974年論文
@zh-hant
1974年論文
@zh-hk
1974年論文
@zh-mo
1974年論文
@zh-tw
1974年论文
@wuu
name
Genetic aspects in gyrate atrophy of the choroid and retina with hyperornithinaemia.
@ast
Genetic aspects in gyrate atrophy of the choroid and retina with hyperornithinaemia.
@en
type
label
Genetic aspects in gyrate atrophy of the choroid and retina with hyperornithinaemia.
@ast
Genetic aspects in gyrate atrophy of the choroid and retina with hyperornithinaemia.
@en
prefLabel
Genetic aspects in gyrate atrophy of the choroid and retina with hyperornithinaemia.
@ast
Genetic aspects in gyrate atrophy of the choroid and retina with hyperornithinaemia.
@en
P2860
P356
P1476
Genetic aspects in gyrate atrophy of the choroid and retina with hyperornithinaemia.
@en
P2093
P2860
P304
P356
10.1136/BJO.58.11.907
P407
P577
1974-11-01T00:00:00Z