Symmetric Age Association of Retinal Degeneration in Patients with CLN2-Associated Batten Disease.

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作者： Kyle D,Kovacs ^[1] ; Samir,Patel ^[2] ; Anton,Orlin ^[1] ; Keunpyo,Kim ^[2] ; Sherri,Van Everen ^[2] ; Therese,Conner ^[2] ; Dolan,Sondhi ^[3] ; Stephen M,Kaminsky ^[3] ; Donald J,D'Amico ^[1] ; Ronald G,Crystal ^[3] ; Szilárd,Kiss ^[4]

作者单位： Department of Ophthalmology, Retina Service, Weill Cornell Medical College, New York, New York. ^[1] Regenxbio Inc, Rockville, Maryland. ^[2] Department of Genetic Medicine, Weill Cornell Medical College, New York, New York. ^[3] Department of Ophthalmology, Retina Service, Weill Cornell Medical College, New York, New York. Electronic address: szk7001@med.cornell.edu. ^[4]

主题词氨肽酶类(Aminopeptidases);儿童, 学龄前(Child, Preschool);DNA(DNA);DNA突变分析(DNA Mutational Analysis);二肽基肽酶类和三肽基肽酶类(Dipeptidyl-Peptidases and Tripeptidyl-Peptidases);荧光素血管造影术(Fluorescein Angiography);眼底(Fundus Oculi);人类(Humans);婴儿(Infant);黄斑变性(Macular Degeneration);突变(Mutation);神经元蜡样质脂褐质沉积病(Neuronal Ceroid-Lipofuscinoses);视网膜(Retina);回顾性研究(Retrospective Studies);丝氨酸蛋白酶类(Serine Proteases);体层摄影术, 光学相干(Tomography, Optical Coherence);视敏度(Visual Acuity)

DOI 10.1016/j.oret.2020.01.011

PMID 32146219

发布时间 2021-12-04

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Ophthalmology. Retina

2020年4卷7期

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Symmetric Age Association of Retinal Degeneration in Patients with CLN2-Associated Batten Disease.

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Symmetric Age Association of Retinal Degeneration in Patients with CLN2-Associated Batten Disease.

Ophthalmology. Retina

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