Myopathy with tubular aggregates and gyrate atrophy of the choroid and retina due to hyperornithinaemia.
作者信息
Fleury M, Barbier R, Ziegler F, Mohr M, Caron O, Dollfus H, Tranchant C, Warter J M
出版信息
J Neurol Neurosurg Psychiatry. 2007 Jun;78(6):656-7. doi: 10.1136/jnnp.2006.101386. Epub 2006 Nov 6.
Abstract
摘要
相似文献
1
Myopathy with tubular aggregates and gyrate atrophy of the choroid and retina due to hyperornithinaemia.高鸟氨酸血症所致伴有管状聚集物的肌病以及脉络膜和视网膜回旋状萎缩
J Neurol Neurosurg Psychiatry. 2007 Jun;78(6):656-7. doi: 10.1136/jnnp.2006.101386. Epub 2006 Nov 6.
2
[Gyrate atrophy of the choroid and retina].[脉络膜和视网膜的回旋状萎缩]
Ryoikibetsu Shokogun Shirizu. 1998(18 Pt 1):163-6.
3
Gyrate atrophy of the choroid and retina with hyperornithinaemia, cystinuria and lysinuria.伴有高鸟氨酸血症、胱氨酸尿症和赖氨酸尿症的脉络膜和视网膜回旋状萎缩
Eye (Lond). 1994;8 ( Pt 3):284-7. doi: 10.1038/eye.1994.58.
4
Hyperornithinemia associated with gyrate atrophy of the choroid and retina in a child with myopia.一名近视儿童患伴有脉络膜和视网膜回旋性萎缩的高鸟氨酸血症。
Indian Pediatr. 2001 Aug;38(8):914-8.
5
Central nervous system involvement in gyrate atrophy of the choroid and retina with hyperornithinaemia.中枢神经系统受累于伴有高鸟氨酸血症的脉络膜和视网膜回旋状萎缩。
J Inherit Metab Dis. 1999 Dec;22(8):855-66. doi: 10.1023/a:1005602405349.
6
[Gyrate atrophy of the retina and choroid from its biochemical aspects].[视网膜和脉络膜回旋性萎缩的生化方面]
Klin Oczna. 1983 Nov-Dec;85(11-12):435-7.
7
Gyrate atrophy of the choroid and retina in a cat.猫的脉络膜和视网膜回旋性萎缩
Invest Ophthalmol Vis Sci. 1981 Feb;20(2):251-5.
8
Mice lacking ornithine-delta-aminotransferase have paradoxical neonatal hypoornithinaemia and retinal degeneration.缺乏鸟氨酸-δ-氨基转移酶的小鼠出现矛盾的新生儿低鸟氨酸血症和视网膜变性。
Nat Genet. 1995 Oct;11(2):185-90. doi: 10.1038/ng1095-185.
9
Gyrate atrophy of the choroid and retina.脉络膜和视网膜的回旋状萎缩
Prog Clin Biol Res. 1982;82:123-34.
10
Hyperornithinaemia associated with gyrate atrophy of the choroid and retina: in vivo and in vitro response to vitamin B6.与脉络膜和视网膜回旋状萎缩相关的高鸟氨酸血症：对维生素B6的体内和体外反应
J Inherit Metab Dis. 1981;4(2):61-2. doi: 10.1007/BF02263591.
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A neonate with ornithine aminotransferase deficiency; insights on the hyperammonemia-associated biochemical phenotype of gyrate atrophy.一名患有鸟氨酸转氨酶缺乏症的新生儿；对视网膜萎缩相关高氨血症生化表型的见解。
Mol Genet Metab Rep. 2022 Mar 16;31:100857. doi: 10.1016/j.ymgmr.2022.100857. eCollection 2022 Jun.
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Multimodal characterization of a novel mutation causing vitamin B6-responsive gyrate atrophy.一种导致维生素B6反应性视网膜色素变性的新型突变的多模态特征分析
Ophthalmic Genet. 2018 Aug;39(4):512-516. doi: 10.1080/13816810.2018.1474370. Epub 2018 May 14.
本文引用的文献
1
Gyrate atrophy of the choroid and retina: further experience with long-term reduction of ornithine levels in children.脉络膜和视网膜的回旋状萎缩：儿童鸟氨酸水平长期降低的更多经验
Arch Ophthalmol. 2002 Feb;120(2):146-53. doi: 10.1001/archopht.120.2.146.
2
Correction of ornithine accumulation prevents retinal degeneration in a mouse model of gyrate atrophy of the choroid and retina.纠正鸟氨酸蓄积可预防脉络膜视网膜回旋性萎缩小鼠模型中的视网膜变性。
Proc Natl Acad Sci U S A. 2000 Feb 1;97(3):1224-9. doi: 10.1073/pnas.97.3.1224.
3
Systemic manifestations of gyrate atrophy of the choroid and retina.
Ophthalmology. 1981 Apr;88(4):302-6. doi: 10.1016/s0161-6420(81)35030-1.
4
Ocular clinicopathologic study of gyrate atrophy.
Am J Ophthalmol. 1991 Jan 15;111(1):24-33. doi: 10.1016/s0002-9394(14)76892-8.
5
Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences.视网膜色素变性中鸟氨酸δ-氨基转移酶突变。等位基因异质性和功能后果。
J Biol Chem. 1992 Feb 15;267(5):3302-7.
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