Suppr超能文献

同一家族中出现的轻度和重度亨特综合征(黏多糖贮积症II型)。

Mild and severe Hunter syndrome (MPS II) within the same sibships.

作者信息

Yatziv S, Erickson R P, Epstein C J

出版信息

Clin Genet. 1977 May;11(5):319-26. doi: 10.1111/j.1399-0004.1977.tb01323.x.

Abstract

X-linked Hunter syndrome (MPS II) is presently thought to exist in two clinically and genetically distinct forms, mild and severe, which are biochemically indistinguishable. However, two sibships have been studied in which both mildy and severely affected children are present. Therefore, genetic counseling for families with MPS II should be reconsidered to take into account the possibility of heterogeneity within a family in terms of the degree of psychomotor retardation and potential longevity.

摘要

X连锁型亨特综合征(黏多糖贮积症II型)目前被认为存在两种临床和遗传上不同的形式,即轻度和重度,这两种形式在生化方面无法区分。然而,已经对两个家系进行了研究,其中既有轻度受影响的儿童,也有重度受影响的儿童。因此,对于患有黏多糖贮积症II型的家庭,应该重新考虑遗传咨询,以考虑到家庭内部在精神运动发育迟缓程度和潜在寿命方面存在异质性的可能性。

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