伴有糖原贮积的角膜炎、鱼鳞病和耳聋综合征
Keratitis, ichthyosis, and deafness syndrome with glycogen storage.
作者信息
Jurecka W, Aberer E, Mainitz M, Jürgensen O
出版信息
Arch Dermatol. 1985 Jun;121(6):799-801.
PMID:2408586
Abstract
Electron microscopy performed in a young girl suffering from keratitis, ichthyosis, and deafness syndrome showed pathologic storage of glycogen in various types of tissues. This finding may be interpreted as evidence of an underlying inborn error of metabolism.
摘要
对一名患有角膜炎、鱼鳞病和耳聋综合征的年轻女孩进行的电子显微镜检查显示，糖原在各种类型的组织中存在病理性蓄积。这一发现可被解释为潜在先天性代谢缺陷的证据。
Zotero 插件