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遗传性皮肤病中的黏多糖贮积症:遗传性大疱性表皮松解症、先天性鱼鳞病和外胚层发育不良

[Mucopolysacchariduria in genetic dermatoses: hereditary epidermolysis bullosa, congenital ichthyosis and ectodermal dysplasia].

作者信息

László A, Havass Z

出版信息

Z Hautkr. 1985 Feb 1;60(3):254-6.

PMID:3993142
Abstract

4 patients suffering from epidermolysis bullosa, 11 persons with genetically determined ichthyosis, as well as 3 cases of x-linked recessive ectodermal dysplasia were investigated with regard to glycosaminoglycane(GAG)uria; the GAG fractions were analysed by means of GAG thin-layer chromatography. All three groups of patients showed increased GAG-uria. The GAG fractions proved to be chondroitin-6-sulphate, chondroitin-4-sulphate, and heparan-sulphate. The pathomechanism of the increased GAG-uria is supposed to be an increased GAG degradation process.

摘要

对4例大疱性表皮松解症患者、11例遗传性鱼鳞病患者以及3例X连锁隐性外胚层发育不良患者进行了关于糖胺聚糖(GAG)尿症的研究;通过GAG薄层色谱法分析GAG组分。所有三组患者均出现GAG尿增加。GAG组分被证实为硫酸软骨素-6、硫酸软骨素-4和硫酸乙酰肝素。GAG尿增加的发病机制被认为是GAG降解过程增加。

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