GM2神经节苷脂沉积症2型（桑德霍夫病）的眼部病理学 - Suppr

Suppr

超能文献

Ocular pathology of GM2 gangliosidosis--Type 2 (Sandhoff's disease).

作者信息

Garner A

出版信息

Br J Ophthalmol. 1973 Jul;57(7):514-20. doi: 10.1136/bjo.57.7.514.

DOI:10.1136/bjo.57.7.514

PMID:4353593

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1214963/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a9a/1214963/3d5f87d79237/brjopthal00283-0071-a.jpg

相似文献

Ocular pathology of GM2 gangliosidosis--Type 2 (Sandhoff's disease).GM2神经节苷脂沉积症2型（桑德霍夫病）的眼部病理学

Br J Ophthalmol. 1973 Jul;57(7):514-20. doi: 10.1136/bjo.57.7.514.

Sandhoff's disease (GM2 gangliosidosis type 2). Histopathology and ultrastructure of the eye.

Arch Ophthalmol. 1980 Jun;98(6):1089-97. doi: 10.1001/archopht.1980.01020031079014.

[Prenatal diagnosis of Sandhoff's disease (GM2-gangliosidosis, type 2)].[桑德霍夫病（GM2神经节苷脂贮积症2型）的产前诊断]

Dtsch Med Wochenschr. 1975 Jan 17;100(3):106-8.

[GM2 gangliosidosis with total beta-N-acetyl-hexosaminidase deficit or Sandhoff's disease].[伴有总β-N-乙酰己糖胺酶缺乏的GM2神经节苷脂贮积症或桑德霍夫病]

Arch Fr Pediatr. 1973 Jan;30(1):29-43.

Late onset GM2-gangliosidosis. Clinical, pathological, and biochemical studies on 8 patients.迟发性GM2神经节苷脂贮积症。8例患者的临床、病理及生化研究

Arch Dis Child. 1973 Oct;48(10):775-85. doi: 10.1136/adc.48.10.775.

[Sandhoff's disease (GM2 gangliosidosis, type 2). Clinical, biochemical and anatomo-clinical study].[桑德霍夫病（GM2神经节苷脂沉积症，2型）。临床、生化及解剖临床研究]

Arch Fr Pediatr. 1973 Jan;30(1):45-60.

Ultrastructure of heart muscle in generalized gangliosidosis GM1.GM1型全身性神经节苷脂沉积症中心肌的超微结构

Z Kinderheilkd. 1971;110(2):104-14. doi: 10.1007/BF00442285.

[Ultrastructural alterations of the kidney in generalized gangliosidosis GM1].[全身性神经节苷脂贮积症GM1中肾脏的超微结构改变]

Virchows Arch B Cell Pathol. 1970;5(4):301-13.

[An unusual form of amaurotic idiocy in infancy: Sandhoff's disease of GM 2 type 2 gangliosidosis].

Bull Mem Soc Fr Ophtalmol. 1976(87):238-42.

[Fine structure of the human liver in generalized gangliosidosis GM1].

Beitr Pathol Anat. 1970;140(2):194-211.

引用本文的文献

Natural history of infantile G(M2) gangliosidosis.婴儿型 GM2 神经节苷脂贮积症的自然史。

Pediatrics. 2011 Nov;128(5):e1233-41. doi: 10.1542/peds.2011-0078. Epub 2011 Oct 24.

Retinal amacrine cell involvement in Tay-Sachs disease.

Acta Neuropathol. 1981;53(4):333-6. doi: 10.1007/BF00690376.

GM1 gangliosidosis, type 2: ocular clinicopathologic correlation.2型GM1神经节苷脂贮积症：眼临床病理相关性

Graefes Arch Clin Exp Ophthalmol. 1984;222(2):51-62. doi: 10.1007/BF02150632.

Ocular pathology of bovine GM1 gangliosidosis.牛GM1神经节苷脂贮积症的眼部病理学

Acta Neuropathol. 1978 Feb 20;41(2):91-5. doi: 10.1007/BF00689758.

本文引用的文献

FORMATION OF THE MEMBRANOUS CYTOPLASMIC BODIES IN TAY-SACHS DISEASE: AN IN VITRO STUDY.泰-萨克斯病中膜性细胞质小体的形成：一项体外研究

J Neuropathol Exp Neurol. 1965 Apr;24:256-64. doi: 10.1097/00005072-196504000-00007.

Studies in Tay-Sachs disease. II. Ultrastructure of the cerebrum.泰-萨克斯病的研究。II. 大脑的超微结构。

J Neuropathol Exp Neurol. 1963 Jan;22:18-55. doi: 10.1097/00005072-196301000-00003.

Tay-Sachs disease: generalized absence of a beta-D-N-acetylhexosaminidase component.泰-萨克斯病：普遍缺乏β-D-N-乙酰己糖胺酶成分。

Science. 1969 Aug 15;165(3894):698-700. doi: 10.1126/science.165.3894.698.

G5-ganglioside variant of systemic late infantile lipidosis. Generalized gangliosidosis.全身性晚发性婴儿脂质沉积症的 G5-神经节苷脂变体。全身性神经节苷脂沉积症。

Arch Pathol. 1969 Apr;87(4):393-403.

Ultrastructure of the retina in Tay-Sach's disease.

Br J Ophthalmol. 1968 Dec;52(12):898-902. doi: 10.1136/bjo.52.12.898.

Deficient hexozaminidase activity in an exceptional case of Tay-Sachs disease with additional storage of kidney globoside in visceral organs.在一例特殊的泰-萨克斯病中，己糖胺酶活性缺乏，同时在内脏器官中额外储存了肾糖苷脂。

Life Sci. 1968 Mar 15;7(6):283-8. doi: 10.1016/0024-3205(68)90024-6.

N-Acetyl-beta-glucosaminidases in human spleen.人脾脏中的N-乙酰-β-氨基葡萄糖苷酶

Biochem J. 1968 Apr;107(3):321-7. doi: 10.1042/bj1070321.

Lysosomes and storage diseases.溶酶体与贮积病

Int Rev Exp Pathol. 1970;9:93-149.

Ganglioside storage diseases.神经节苷脂贮积病

Fed Proc. 1971 May-Jun;30(3):956-69.

[A disorder of ganglioside metabolism with storage of ceramide lactoside, monosialo ceramide lactoside and Tay-Sachs ganglioside in the brain].一种神经节苷脂代谢紊乱疾病，伴有脑内神经酰胺乳糖苷、单唾液酸神经酰胺乳糖苷和泰-萨克斯神经节苷脂蓄积

J Neurochem. 1966 Dec;13(12):1273-82. doi: 10.1111/j.1471-4159.1966.tb04290.x.

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验