表现为黏多糖贮积症的贮积障碍

Storage disorders presenting like mucopolysaccharidosis.

作者信息

Sanklecha M U, Kher A, Naik G G, Bharucha B A, Mahajan P

机构信息

Pediatric Research Laboratory, Seth G.S. Medical College, Parel, Bombay.

出版信息

Indian J Pediatr. 1994 Jul-Aug;61(4):367-72. doi: 10.1007/BF02751891.

DOI:10.1007/BF02751891

PMID:8002065

Abstract

The term dysostosis multiplex is specifically applied to the group of radiological features collectively found in a number of specific metabolic disorders including the mucopolysaccharidoses, mucolipidosis, mannosidosis, fucosidosis and several other rarer conditions. We report eight cases of mannosidosis, fucosidosis and mucolipidosis with special emphasis on the differentiation from the more common mucopolysaccharidoses.

摘要

多发性骨发育异常这一术语专门用于描述在多种特定代谢紊乱（包括黏多糖贮积症、黏脂贮积症、甘露糖苷贮积症、岩藻糖苷贮积症及其他一些罕见病症）中共同出现的一组放射学特征。我们报告了8例甘露糖苷贮积症、岩藻糖苷贮积症和黏脂贮积症病例，特别强调了与较常见的黏多糖贮积症的鉴别。