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。
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
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
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。
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
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。
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。
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
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
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
RFLP of A Stu I Site in the GALNS Gene in Mucopolysaccharidosis Type ⅳ A of Chinese Han Population 中国汉族群体MPSⅣA型StuⅠ位点的遗传多态性
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
Mucopolysaccharidosis: a report of 4 cases 粘多糖病4例报告
any of a group of genetic disorders involving a defect in the metabolism of mucopolysaccharides resulting in greater than normal levels of mucopolysaccharides in tissues