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岩藻糖苷贮积症:一名成年人眼部的超微结构研究

Fucosidosis: ultrastructural study of the eye in an adult.

作者信息

Hoshino M, O'Brien T P, McDonnell J M, de la Cruz Z C, Green W R

机构信息

Eye Pathology Laboratory, Wilmer Ophthalmological Institute, Johns Hopkins Medical Institutions, Baltimore, Md.

出版信息

Graefes Arch Clin Exp Ophthalmol. 1989;227(2):162-71. doi: 10.1007/BF02169791.

DOI:10.1007/BF02169791
PMID:2721986
Abstract

The ocular histopathological and ultrastructural features of fucosidosis in a man who survived to the age of 25 years are reported. Virtually all of the cells of the eye contained cytoplasmic, membrane-bound, and confluent areas of fibrillogranular and multilaminated material. The most striking accumulations were present within the endothelial cells lining blood vessels and corneal endothelium, and the least amount was present in the uveal melanocytes.

摘要

报告了一名活到25岁的岩藻糖苷贮积症患者眼部的组织病理学和超微结构特征。几乎眼部所有细胞都含有细胞质内、膜结合的、融合的纤维颗粒状和多层状物质区域。最显著的蓄积物存在于血管内皮细胞和角膜内皮细胞内,而葡萄膜黑素细胞中的含量最少。

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引用本文的文献

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Ocular findings in a patient with fucosidosis.一名岩藻糖苷贮积症患者的眼部检查结果
Am J Ophthalmol Case Rep. 2016 Oct 13;4:83-86. doi: 10.1016/j.ajoc.2016.10.003. eCollection 2016 Dec.

本文引用的文献

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Ultrastructural studies of type II fucosidosis.II型岩藻糖苷贮积症的超微结构研究。
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Tortuosities of retinal and conjunctival vessels in lysosomal storage diseases.
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Adult fucosidosis: histochemical and ultrastructural studies of rectal mucosa biopsy.成人岩藻糖苷贮积症:直肠黏膜活检的组织化学和超微结构研究
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[Fucosidosis. Ocular ultrastructure].[岩藻糖苷贮积症。眼部超微结构]
J Fr Ophtalmol. 1984;7(8-9):519-27.
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[Fucosidosis: a new congenital error of metabolism].[岩藻糖苷贮积症:一种新的先天性代谢紊乱疾病]
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Deficiency of alpha-L-fucosidase.α-L-岩藻糖苷酶缺乏症
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Biochemical and ultrastructural studies in a case of mucopolysaccharidosis "F" (fucosidosis).黏多糖贮积症“F”(岩藻糖苷贮积症)一例的生化及超微结构研究
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