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Ophthalmologic findings in Gaucher's disease type III: case report

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DataCite Commons2020-08-30 更新2024-07-27 收录
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https://scielo.figshare.com/articles/Ophthalmologic_findings_in_Gaucher_s_disease_type_III_case_report/5930941/1
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资源简介:
Abstract We report a case of a patient with Guacher's disease type III, with mutation in Exon9, 1246G> A and 1251G> C, seeking to investigate the suspected glaucoma, to describe the ophthalmological findings, as glycolipid accumulation in the pre-retinal region and to investigate The possible correlation with the decrease of the layer of nerve fibers.
提供机构:
SciELO journals
创建时间:
2018-02-28
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