mucopolysaccharidosis

Human fetal liver cell transplantation in treatment of mucopolysaccharidosis

胎肝细胞移植治疗粘多糖贮积症的实验研究

Objective To probe criteria for diagnosing mucopolysaccharidosis using X-ray .

目的探讨粘多糖贮积症的X线诊断要点。

Cardiac Findings After Enzyme Replacement Therapy for Mucopolysaccharidosis Type I

黏多糖贮积症I型酶替代治疗后的心脏改变

X-ray , MRI characteristics and clinical manifestation of mucopolysaccharidosis

粘多糖病的X线、MRI影像特征与临床表现

X - ray diagnosis and clinical manifestations of mucopolysaccharidosis

粘多糖贮积症的X线诊断及其临床表现

Objective To investigate the molecular genetic mechanism of a Chinese patient with mucopolysaccharidosis type ⅰ( MPS ⅰ) .

目的研究粘多糖贮积症I型（mucopolysaccharidosistypeⅠ，MPSⅠ）患者发病的分子遗传学机理。

Mucopolysaccharidosis : a report of 4 cases

粘多糖病4例报告

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

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

Objective To investigate and establish the gene diagnosis methods for the frequent mutations of iduronate-2-sulphatase ( IDS ) gene in mucopolysaccharidosis type ⅱ patients .

目的探讨并建立粘多糖贮积症型（mucopolysaccharidosis，MPS）患者艾杜糖-2-硫酸酯酶（iduronate-2-sulphatase，IDS）基因常见突变的检测方法。

Results Abnormal mucopolysaccharides can deposit in a wide variety of body organs causing mucopolysaccharidosis in different types , which present unique X-ray features and clinical signs .

结果异常的粘多糖可沉积于体内不同的组织和器官，形成不同类型的粘多糖贮积症，各型的影像和临床表现均有一定特征。

The detection of the frequent mutations of iduronate - 2 - sulphatase gene in mucopolysaccharidosis type ⅱ patients in Chinese

粘多糖贮积症Ⅱ型患者艾杜糖-2-硫酸酯酶基因常见突变的检测

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 .

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。

Pharmacokinetic profile of recombinant human N-acetylgalactosamine 4-sulphatase enzyme replacement therapy in patients with mucopolysaccharidosis VI ( Maroteaux-Lamy syndrome ): A phase I / II study

人类N-乙酰半乳糖胺4-硫酸酯酶重组体在黏多糖病Ⅵ型（马-拉二综合征）患者替代疗法中的药物代谢动力学模式：一项Ⅰ/Ⅱ期研究

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 .

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。