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Genetic aspects in gyrate atrophy of the choroid and retina with hyperornithinaemia.

作者信息

Takki K, Simell O

出版信息

Br J Ophthalmol. 1974 Nov;58(11):907-16. doi: 10.1136/bjo.58.11.907.

DOI:10.1136/bjo.58.11.907
PMID:4457103
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1215056/
Abstract
摘要

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1
Genetic aspects in gyrate atrophy of the choroid and retina with hyperornithinaemia.伴有高鸟氨酸血症的脉络膜视网膜回旋性萎缩的遗传学方面。
Br J Ophthalmol. 1974 Nov;58(11):907-16. doi: 10.1136/bjo.58.11.907.
2
Gyrate atrophy of the choroid and retina associated with hyperornithinaemia.与高鸟氨酸血症相关的脉络膜和视网膜回旋状萎缩。
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3
Gyrate atrophy of the choroid and retina.脉络膜和视网膜的回旋状萎缩
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4
Classification of the choroidal atrophies.
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6
Differential diagnosis of diffuse choroidal atrophies. Diffuse choriocapillaris atrophy, choroideremia, and gyrate atrophy of the choroid and retina.弥漫性脉络膜萎缩的鉴别诊断。弥漫性脉络膜毛细血管萎缩、无脉络膜症以及脉络膜和视网膜回旋状萎缩。
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8
[Gyrate atrophy of the choroid and retina with hyperornithinemia in an African family].[一个非洲家族中伴有高鸟氨酸血症的脉络膜和视网膜回旋性萎缩]
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本文引用的文献

1
ATROPHIA GYRATA CHOROIDEAE ET RETINAE.脉络膜视网膜回旋性萎缩
Br J Ophthalmol. 1948 Nov;32(11):824-47. doi: 10.1136/bjo.32.11.824.
2
HEREDITARY CHORIO-RETINAL DEGENERATIONS AND METABOLIC DISTURBANCES.遗传性脉络膜视网膜变性与代谢紊乱
Exp Eye Res. 1964 Dec;3:405-11. doi: 10.1016/s0014-4835(64)80052-x.
3
Atrophia choroideae et retinae.脉络膜和视网膜萎缩
Chin Med J. 1960 Jun;80:562-3.
4
[Carrier of the gene of atrophia gyrata choroidae et retinae of Fuchs (Alder's anomaly)].
Bull Soc Belge Ophtalmol. 1959;122:367-82.
5
A familial disturbance of histidine metabolism.一种组氨酸代谢的家族性紊乱。
N Engl J Med. 1961 Aug 3;265:221-4. doi: 10.1056/NEJM196108032650504.
6
[On the presence of druse in distorted coroid and retinal atrophy].[关于变形脉络膜和视网膜萎缩中玻璃膜疣的存在]
Ophthalmologica. 1967;154(4):361-6. doi: 10.1159/000305195.
7
Further studies of hyperlysinemia.高赖氨酸血症的进一步研究。
Am J Dis Child. 1966 Dec;112(6):577-80. doi: 10.1001/archpedi.1966.02090150121014.
8
Hyperornithinemia, hyperammonemia, and homocitrullinuria. A new disorder of amino acid metabolism associated with myoclonic seizures and mental retardation.高鸟氨酸血症、高氨血症和同型瓜氨酸尿症。一种与肌阵挛性癫痫和智力发育迟缓相关的新的氨基酸代谢紊乱疾病。
Am J Dis Child. 1969 Jan;117(1):83-92.
9
[Ornithinemia, additional disorder of amino acid metabolism with brain damage].[鸟氨酸血症，伴有脑损伤的另一种氨基酸代谢紊乱]
Dtsch Med Wochenschr. 1968 Nov 22;93(47):2247-51. doi: 10.1055/s-0028-1110918.
10
[Gyrate atrophy with nystagmus and strabismus].[伴有眼球震颤和斜视的回旋状萎缩]
Klin Monbl Augenheilkd. 1970 Mar;156(3):377-90.