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- While Sandhoff and Tay-Sachs are relatiely rare, one person in 5,000 is affected by a disease that falls into a category of lysosomal storage diseases. 然而山德霍夫氏病和泰伊-萨克斯病还是相对较少的，5000人中只有1人受到这种溶酶体贮积症的影响。
- Keywords Lysosomal storage diseases;Diagnosis;Therapy; 溶酶体贮积病;诊断;治疗;
- lysosomal storage disease 溶酶体贮存病
- these enzymes are congenitally absent in sufferers of lysosomal storage diseases. 在溶酶体储存病患者中，天生缺乏这些酶。
- Such deficiencies cause lysosomal storage disorders, such as Gaucher's disease, and replacement of the gene is an effective treatment. 这样的缺陷引起溶酶体堆积病（例如，高歇病），基因置换是一种有效的疗法。
- Lysosomal storage diseases 溶酶体贮积病
- Keywords Lysosomes;Mucolipidoses;Lysosomal storage diseases;nervous system;Deaf;Mice; 溶酶体;黏脂质累积病;溶酶体累积病;神经系统;聋;小鼠;
- Objective:To analyze the clinical characteristic of pediatric glycogen storage disease. 目的:分析儿童期肝糖原累积病的临床特点。
- Acid maltase deficiency (AMD) is a form of glycogen storage disease, which is an inherited autosomal recessive disease and rarely found in adults. 摘要酸性麦芽糖酵素缺乏症在成人当中是一个罕见的遗传染色体隐性疾病。
- Methods: 42 children who were diagnosed as liver glycogen storage disease during January 1990 January 2006 were retrospectively analyzed. 方法：回顾分析1990年1月－2006年1月收治的42例以肝脏损害为主的肝糖原累积病患儿的临床资料。
- Type I Glycogen Storage Disease accounts for about 25% of all cases of GSD diagnosed in the USA and in Europe and has an estimated incidence of about 1 in 100,000 live births. 第一类型肝糖储藏疾病占有在美国和欧洲被诊断而且有 100,000 的活的出生的大约 1 被估计的影响之方式的 GSD 的大约 25%25 的所有情形。
- His disease was complicated by pneumonia. 他的病因肺炎并发症而变得更严重。
- Biological control is a promising approach to reduce the storage diseases of jujube fruit. 生物防治是控制枣果采后病害的研究新方向。
- Debrancher deficiency glycogen storage disease 脱支链缺乏糖原贮积病
- What can we do to prevent the disease spreading? 我们能做什么来防止这种疾病蔓延呢？
- John put up a real fight to overcome the disease. 约翰为征服疾病，进行了不屈的斗争。
- The poor man has a serious disease of the liver. 这个可怜的人患有严重的肝病。
- cerebral glycogen storage disease 大脑性糖原贮积病
- He was found in incurable disease. 他被查出得了不治之症。
- A storage cell in some amorphous memory devices. 某些非晶体存储器中的一个存储单元。
