Suppr超能文献

IV A型黏多糖贮积症(Morquio综合征):三例同胞病例系列报道

Mucopolysaccharidoses type IV A (Morquio syndrome): a case series of three siblings.

作者信息

Rekka P, Rathna P V, Jagadeesh S, Seshadri S

机构信息

Department of Pediatric and Preventive Dentistry, Meenakshi Ammal Dental College and Hospital, Meenakshi University, Maduravoyal, India.

出版信息

J Indian Soc Pedod Prev Dent. 2012 Jan-Mar;30(1):66-9. doi: 10.4103/0970-4388.95586.

Abstract

Mucopolysaccharidoses (MPS) are a family of inherited metabolic diseases that results from the deficiency of lysosomal enzymes involved in the degradation of the glycosaminoglycans (mucopolysaccharides). Despite the well-documented oral and dental findings of MPS type IV, there is not much literature documented about the incidence of this disorder among siblings in the same family. This report outlines the clinical and radiographic findings found in three siblings with Morquio syndrome.

摘要

黏多糖贮积症(MPS)是一类遗传性代谢疾病,由参与糖胺聚糖(黏多糖)降解的溶酶体酶缺乏所致。尽管已有关于IV型MPS口腔和牙齿表现的详尽文献记载,但关于同一家庭中兄弟姐妹患该疾病的发病率,文献记载并不多。本报告概述了三名患有Morquio综合征的兄弟姐妹的临床和影像学表现。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验