庞贝

My child was picked up by neonatal screening for Pompe disease because of low enzyme activity.

我的小孩因为接受庞贝氏症新生儿筛检，发现其酵素活性偏低。

We then developed a method of newborn screening for Pompe disease, and started a pilot screening program.

我们接著开发庞贝氏症新生儿筛检之方法，并且进行前导筛检作业。

In this study, we hypothesis that newborn screening for Pompe disease can offer an opportunity for early treatment of Pompe disease.

本研究的目的在探求新生儿筛检可以早期诊断庞贝氏症，给予患者早期治疗的机会。

Pompe's disease affects mainly children and can prove fatal by causing heart and lung failure.

庞贝氏症主要是发生在小孩身上，会因为心脏、呼吸衰竭死亡。

Methods: We first analyzed phenotype and genotypes of Pompe disease in Taiwan, and explored factors which may affect the outcome.

我们首先分析台湾庞贝氏症患者之表现型、基因型、以及个案之分布，以及是否有导致治疗失败之因子。

Background: Pompe disease is due to a deficiency of lysosomal acid alpha glucosidase, and currently an enzyme replacement therapy has been developed.

中文摘要背景：庞贝氏症是一种因为溶小体缺乏酸性醣苷酶无法分解肝醣所引起之疾病。

The biotechnology company Genzyme spent five hundred million dollars developing the drug Myozyme, which is intended for a condition, Pompe disease, that afflicts fewer than ten thousand people worldwide.

生物技术公司健赞投入5亿美元研发了一种治疗庞贝氏症的治疗药Myozyme，这种疾病的患者在全世界不超过1万名。

The medication developed by the Academia Sinica team is the only approved treatment for Pompe's disease available, giving children who originally thought they would never grow up, another chance at life.

全球唯一也是第一个治疗庞贝氏症的药物，核准上市，更奠定治愈其他肌肉病变的基础，这也给了更多原本以为长不大的孩子，一线希望。

Pompe's disease is a rare hereditary condition that causes an enzyme deficiency, which in turn leads to the buildup of glycogen, a stored form of sugar used for energy. The glycogen buildup causes progressive muscle weakness throughout the body, particularly in the heart, skeletal muscles, liver, and nervous system. In extreme cases, children can also die of heart failure.

庞贝氏症是一种遗传的罕见疾病，因为缺乏体内的酵素，导致肝醣无法分解堆积，因肝醣无法分解堆积造成心脏肥大、肌肉无力，肝脏和神经系统衰弱，在ㄧ些更极端的病例中，最后就因为心脏衰竭死亡。

In order to realize the etiology, I agree that the Department of Medical Genetics NTUH, or their consulting institutes, can use the DNA extracted from either blood or tissues of my child and the parents forthe genetic analysis of Pompe disease.

今同意台大医院基因医学部及其委托之检验机构，采用小孩及父母亲之血液或其他组织检体中之DNA，进行庞贝氏症之基因分析，以了解其原因。

According to the clear water experiment, aeration performance of the new equipment is good with high total oxygen transfer coefficient and oxygen utilization ratio.

曝气设备的动力效率在叶轮转速为120rpm～150rpm时取得最大值，此时氧利用率和充氧能力也具有较高值。

The environmental stability of that world - including its crushing pressures and icy darkness - means that some of its most famous inhabitants have survived for eons as evolutionary throwbacks, their bodies undergoing little change.

稳定的海底环境─包括能把人压扁的压力和冰冷的黑暗─意谓海底某些最知名的栖居生物已以演化返祖的样态活了万世，形体几无变化。