Retinal degeneration in mucopolysaccharidose type II.

Suppr

超能文献

作者信息

Liang F, Audo I, Sahel J A, Paques M

出版信息

Graefes Arch Clin Exp Ophthalmol. 2013 Jul;251(7):1871-2. doi: 10.1007/s00417-012-2215-1. Epub 2012 Dec 4.

DOI:10.1007/s00417-012-2215-1

PMID:23208705

Abstract

摘要

相似文献

Retinal degeneration in mucopolysaccharidose type II.

Graefes Arch Clin Exp Ophthalmol. 2013 Jul;251(7):1871-2. doi: 10.1007/s00417-012-2215-1. Epub 2012 Dec 4.

Electroretinography and optical coherence tomography reveal abnormal post-photoreceptoral activity and altered retinal lamination in patients with enhanced S-cone syndrome.视网膜电图和光学相干断层扫描显示，增强型S-锥体综合征患者存在光感受器后活动异常和视网膜分层改变。

Doc Ophthalmol. 2015 Jun;130(3):165-77. doi: 10.1007/s10633-015-9487-9. Epub 2015 Feb 7.

Spectral domain optical coherence tomography imaging of mucopolysaccharidoses I, II, and VI A.黏多糖贮积症 I 型、II 型和 VI A 型的光谱域光学相干断层扫描成像

Graefes Arch Clin Exp Ophthalmol. 2015 Dec;253(12):2111-9. doi: 10.1007/s00417-015-2953-y. Epub 2015 Feb 18.

Early Retinal Changes in Hunter Syndrome According to Spectral Domain Optical Coherence Tomography.基于频域光学相干断层扫描的亨特综合征早期视网膜变化

Korean J Ophthalmol. 2016 Apr;30(2):151-3. doi: 10.3341/kjo.2016.30.2.151. Epub 2016 Mar 25.

Enhanced S-Cone Syndrome and Macular Hole.增强型S锥体综合征与黄斑裂孔。

JAMA Ophthalmol. 2015 Jun;133(6):e15108. doi: 10.1001/jamaophthalmol.2015.108. Epub 2015 Jun 11.

Pigmented Paravenous Chorioretinal Atrophy: Clinical Spectrum and Multimodal Imaging Characteristics.色素性静脉旁脉络膜视网膜萎缩：临床谱及多模态影像学特征

Am J Ophthalmol. 2021 Apr;224:120-132. doi: 10.1016/j.ajo.2020.12.010. Epub 2020 Dec 16.

Hyperautofluorescent macular ring in a series of patients with enhanced S-cone syndrome.一系列增强型S锥体综合征患者中的高自发荧光黄斑环

Ophthalmic Surg Lasers Imaging Retina. 2014 Nov-Dec;45(6):592-5. doi: 10.3928/23258160-20141118-17.

High-resolution retinal imaging of cone-rod dystrophy.视锥-视杆营养不良的高分辨率视网膜成像

Ophthalmology. 2006 Jun;113(6):1019.e1. doi: 10.1016/j.ophtha.2006.01.056. Epub 2006 May 2.

Multimodal image analysis of the retina in Hunter syndrome (mucopolysaccharidosis type II): Case report.亨特综合征（II型黏多糖贮积症）视网膜的多模态图像分析：病例报告

Ophthalmic Genet. 2018 Jan-Feb;39(1):103-107. doi: 10.1080/13816810.2017.1354383. Epub 2017 Aug 18.

[Multimodal imaging in Goldmann-Favre syndrome].[戈德曼-法夫尔综合征的多模态成像]

Ophthalmologe. 2018 Oct;115(10):878-882. doi: 10.1007/s00347-017-0627-3.

引用本文的文献

Non-syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity.与 SUMF1 双等位基因突变相关的非综合征性视网膜营养不良和白细胞硫酸酯酶活性降低。

Clin Genet. 2024 Oct;106(4):505-511. doi: 10.1111/cge.14573. Epub 2024 Jun 11.

Retinal and optic nerve degeneration in α-mannosidosis.α-甘露糖苷贮积症的视网膜和视神经变性。

Orphanet J Rare Dis. 2018 Jun 1;13(1):88. doi: 10.1186/s13023-018-0829-z.

Spectral domain optical coherence tomography imaging of mucopolysaccharidoses I, II, and VI A.黏多糖贮积症 I 型、II 型和 VI A 型的光谱域光学相干断层扫描成像

Graefes Arch Clin Exp Ophthalmol. 2015 Dec;253(12):2111-9. doi: 10.1007/s00417-015-2953-y. Epub 2015 Feb 18.

本文引用的文献

Lysosomal storage disease: revealing lysosomal function and physiology.溶酶体贮积症：揭示溶酶体的功能和生理学。

Physiology (Bethesda). 2010 Apr;25(2):102-15. doi: 10.1152/physiol.00041.2009.

Does enzyme replacement therapy influence the ocular changes in type VI mucopolysaccharidosis?酶替代疗法会影响 VI 型黏多糖贮积症的眼部变化吗？

Graefes Arch Clin Exp Ophthalmol. 2009 Jul;247(7):975-80. doi: 10.1007/s00417-008-1030-1. Epub 2009 Jan 22.

ISCEV Standard for full-field clinical electroretinography (2008 update).国际临床视觉电生理学会全视野临床视网膜电图标准（2008年更新版）

Doc Ophthalmol. 2009 Feb;118(1):69-77. doi: 10.1007/s10633-008-9155-4. Epub 2008 Nov 22.

Hunter syndrome (MPS II-B): a report of bilateral vitreous floaters and maculopathy.

Ophthalmic Genet. 2006 Jun;27(2):71-2. doi: 10.1080/13816810600677966.

Ocular manifestations and pathology of systemic mucopolysaccharidoses.系统性黏多糖贮积症的眼部表现及病理

Birth Defects Orig Artic Ser. 1976;12(3):133-53.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验