Suppr超能文献

简短报告:一名I型先天性红细胞生成异常性贫血(CDA-I)患者的红细胞膜显示出与II型先天性红细胞生成异常性贫血(HEMPAS)患者相同的糖缀合物异常,不过程度较轻。

Short report: erythrocyte membranes from a patient with congenital dyserythropoietic anaemia type I (CDA-I) show identical, although less pronounced, glycoconjugate abnormalities to those from patients with CDA-II (HEMPAS).

作者信息

Zdebska E, Woźniewicz B, Adamowicz-Salach A, Kościelak J

机构信息

Department of Biochemistry, Institute of Haematology and Blood Transfusion, Warsaw, Poland.

出版信息

Br J Haematol. 2000 Sep;110(4):998-1001. doi: 10.1046/j.1365-2141.2000.02288.x.

Abstract

Congenital dyserythropoietic anaemias (CDAs) are rare hereditary disorders characterized by ineffective erythropoiesis and multinuclearity of erythroblasts. Three main types of the disease have been described. Glycoconjugate abnormalities in erythrocyte membrane glycoconjugates, consisting of hypoglycosylation of band 3 and accumulation of certain glycosphingolipids including lactotriaosylceramide, neolactotriaosylceramide and polyglycosylceramides, have been described only in patients with CDA type II (CDA-II). We report on identical, although less pronounced, abnormalities in erythrocyte glycoconjugates from a patient with CDA-I. A low degree of hypoglycosylation of band 3 in our patient with CDA-I suggests that hypoglycosylation is not a cause, but, most probably, a consequence of dyserythropoiesis.

摘要

先天性红细胞生成异常性贫血(CDAs)是一种罕见的遗传性疾病,其特征为红细胞生成无效以及成红细胞多核化。该疾病主要有三种类型。红细胞膜糖缀合物中的糖缀合物异常,包括带3糖基化不足以及某些糖鞘脂(包括乳糖神经酰胺三糖、新乳糖神经酰胺三糖和多糖基神经酰胺)的积累,仅在II型先天性红细胞生成异常性贫血(CDA-II)患者中有所描述。我们报告了1例I型先天性红细胞生成异常性贫血(CDA-I)患者的红细胞糖缀合物存在相同但程度较轻的异常情况。我们的CDA-I患者中带3糖基化不足程度较低,这表明糖基化不足并非红细胞生成异常的原因,而极有可能是其结果。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验