Ia型先天性糖基化障碍中的黄斑发育不全。
Macular hypoplasia in congenital disorder of glycosylation type ia.
作者信息
Wang Bob Z, Siriwardana Pradeep, Taranath Deepa
机构信息
Department of Ophthalmology, Flinders Medical Centre and Flinders University, Bedford Park, S.A., Australia.
出版信息
Case Rep Ophthalmol. 2012 Jan;3(1):142-4. doi: 10.1159/000338627. Epub 2012 Apr 30.
Abstract
Congenital disorders of glycosylation are a rare group of metabolic disorders that can result in multiorgan disease. This article describes a novel finding of macular hypoplasia in congenital disorders of glycosylation type Ia.
摘要
糖基化先天性疾病是一组罕见的代谢紊乱疾病，可导致多器官病变。本文描述了Ia型糖基化先天性疾病中黄斑发育不全这一全新发现。
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