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

作者信息

Kennaway N G, Weleber R G, Buist N R

出版信息

N Engl J Med. 1977 Nov 24;297(21):1180. doi: 10.1056/nejm197711242972116.

DOI:10.1056/nejm197711242972116
PMID:917049
Abstract
摘要

相似文献

1
Gyrate atrophy of choroid and retina: deficient activity of ornithine ketoacid aminotransferase in cultured skin fibroblasts.脉络膜和视网膜的回旋状萎缩：培养的皮肤成纤维细胞中鸟氨酸酮酸氨基转移酶活性不足
N Engl J Med. 1977 Nov 24;297(21):1180. doi: 10.1056/nejm197711242972116.
2
L-Ornithine-ketoacid-transaminase deficiency in cultured fibroblasts of a patient with hyperornithinaemia and gyrate atrophy of the choroid and retina.一名患有高鸟氨酸血症及脉络膜和视网膜回旋状萎缩的患者的培养成纤维细胞中L-鸟氨酸-酮酸转氨酶缺乏症
Clin Chim Acta. 1977 Sep 1;79(2):371-7. doi: 10.1016/0009-8981(77)90431-4.
3
Gyrate atrophy of the choroid and retina with reticular pigmentary dystrophy and ornithine-ketoacid-transaminase deficiency.伴有网状色素性营养不良和鸟氨酸 - 酮酸转氨酶缺乏症的脉络膜和视网膜回旋状萎缩
Int Ophthalmol. 1978 Sep;1(1):49-56. doi: 10.1007/BF00133277.
4
Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and retina.鸟氨酸酮酸转氨酶缺乏与视网膜脉络膜回旋性萎缩
Am J Hum Genet. 1978 Mar;30(2):174-9.
5
Hyperornithinemia and gyrate atrophy of choroid and retina. Report of a case.高鸟氨酸血症与脉络膜和视网膜的回旋状萎缩。病例报告。
Helv Paediatr Acta. 1978 Nov;33(4-5):429-33.
6
[Study on the pathogenesis of gyrate atrophy. Part 1. Ornithine ketoacid transaminase (author's transl)].[回旋状萎缩的发病机制研究。第1部分。鸟氨酸酮酸转氨酶（作者译）]
Nippon Ganka Gakkai Zasshi. 1980 Aug;84(8):691-8.
7
Deficient L-ornithine: 2-oxoacid aminotransferase activity in cultured fibroblasts from a patient with gyrate atrophy of the retina.视网膜回旋性萎缩患者培养成纤维细胞中L-鸟氨酸：2-氧代酸转氨酶活性缺乏
Biochem Biophys Res Commun. 1977 Nov 21;79(2):396-9. doi: 10.1016/0006-291x(77)90170-x.
8
Pyridoxine effects on ornithine ketoacid transaminase activity in fibroblasts from carriers of two forms of gyrate atrophy of the choroid and retina.吡哆醇对两种脉络膜视网膜回旋性萎缩携带者成纤维细胞中鸟氨酸酮酸转氨酶活性的影响
Am J Hum Genet. 1988 Dec;43(6):929-33.
9
Hyperornithinemia, gyrate atrophy, and ornithine ketoacid transaminase.高鸟氨酸血症、回旋状萎缩与鸟氨酸酮酸转氨酶
Adv Exp Med Biol. 1982;153:353-8. doi: 10.1007/978-1-4757-6903-6_43.
10
Gyrate atrophy of the choroid and retina: deficiency of ornithine aminotransferase in transformed lymphocytes.脉络膜和视网膜的回旋状萎缩：转化淋巴细胞中鸟氨酸转氨酶缺乏
Proc Natl Acad Sci U S A. 1977 Nov;74(11):5159-61. doi: 10.1073/pnas.74.11.5159.

引用本文的文献

1
REP1 deficiency causes systemic dysfunction of lipid metabolism and oxidative stress in choroideremia.REP1 缺失导致脉络膜白化病的脂质代谢和氧化应激的全身功能障碍。
JCI Insight. 2021 May 10;6(9):146934. doi: 10.1172/jci.insight.146934.
2
Gyrate atrophy of the choroid and retina with hyperornithinemia: biochemical and histologic studies and response to vitamin B6.
Am J Hum Genet. 1980 Jul;32(4):529-41.
3
Gyrate atrophy of the choroid and retina: amino acid metabolism and correction of hyperornithinemia with an arginine-deficient diet.脉络膜和视网膜的回旋状萎缩：氨基酸代谢以及用无精氨酸饮食纠正高鸟氨酸血症
J Clin Invest. 1980 Feb;65(2):371-8. doi: 10.1172/JCI109680.
4
Gyrate atrophy of the retina and choroid. Two methods for prenatal diagnosis.视网膜和脉络膜的回旋状萎缩。两种产前诊断方法。
Int Ophthalmol. 1981 Aug;4(1-2):33-6. doi: 10.1007/BF00139578.
5
Clinical research methodology in ophthalmology.眼科临床研究方法学
Trans Am Ophthalmol Soc. 1980;78:896-946.
6
Gyrate atrophy of the choroid and retina with hyperornithinemia: characterization of mutant liver L-ornithine:2-oxoacid aminotransferase kinetics.伴有高鸟氨酸血症的脉络膜和视网膜回旋性萎缩：突变型肝脏L-鸟氨酸：2-氧代酸氨基转移酶动力学特征
J Clin Invest. 1981 Jun;67(6):1805-7. doi: 10.1172/jci110222.
7
Gyrate atrophy of the choroid and retina. Approaches to therapy.脉络膜和视网膜的回旋状萎缩。治疗方法。
Int Ophthalmol. 1981 Aug;4(1-2):23-32. doi: 10.1007/BF00139577.
8
Gyrate atrophy of the choroid and retina: assignment of the ornithine aminotransferase structural gene to human chromosome 10 and mouse chromosome 7.脉络膜和视网膜的回旋状萎缩：鸟氨酸转氨酶结构基因定位于人类染色体10和小鼠染色体7。
Am J Hum Genet. 1988 Dec;43(6):922-8.
9
The ornithine aminotransferase gene in gyrate atrophy of the retina: analysis of expression and gross structure of this gene in cultured fibroblasts.视网膜回旋状萎缩中的鸟氨酸转氨酶基因：该基因在培养成纤维细胞中的表达及总体结构分析
In Vitro Cell Dev Biol. 1989 Oct;25(10):971-6. doi: 10.1007/BF02624012.