粘多糖病

粘多糖病的X线、MRI影像特征与临床表现

X-ray , MRI characteristics and clinical manifestation of mucopolysaccharidosis

粘多糖病4例报告

Mucopolysaccharidosis : a report of 4 cases

对粘多糖病，Q-T延长综合征作了ABR家系观察、杂合子检测，发现有听阈及ABR波型改变。

Through family investigation of detection to patients with mucopolysaccharidosis and long Q-T interval syndrome , changes in hearing threshold and ABR wave forms were also found in carriers .

该研究进行了异基因造血干细胞移植治疗该病的初步尝试，探讨异基因干细胞移植治疗粘多糖病的疗效。

This study reported the therapeutic effect of allogeneic hematopoietic stem cell transplantation ( allo-HSCT ) on Hurler syndrome in one case .

亨特氏综合症是二型粘多糖沉积病（MPSII），是一种极其罕见的遗传性酶紊乱疾病，发病者基本只有男性。

Hunter syndrome , known more formally as mucopolysaccharidosis type II or MPS II , is an extremely rare inherited enzyme disorder that occurs almost exclusively in males .

粘多糖沉积病的生化研究&Ⅰ、两例Sanfilippo综合征尿氨基多糖的分析

Biochemical studies on mucopolysaccharidosis ⅰ . characterization of glycosaminoglycans in urine from two patients with sanfilippo 's syndrome