For effective management of these infants, it is critical that all potential causes are examined as early in the course of disease as possible. Pompe disease, also known as glycogen storage ...

庞贝病（Pompe disease）患病率存地区差异，诊断标准不统一。研究人员开展全球庞贝病流行病学研究，分析相关数据。结果显示患病率、诊断酶切值差异大，受种族等影响。该研究为规范诊断、精准防控提供依据。 庞贝病，又称糖原贮积症 II 型或酸性麦芽糖酶 ...

t's important for children with Pompe disease to receive early and ongoing medical care to help manage their condition and improve their quality of life. International Pompe Day falls in April ...

Pompe disease is a rare genetic disorder that’s caused by the body’s inability to break down glycogen, a stored form of glucose, which is the body’s main form of energy. Normally ...

Pompe disease is caused by a deficiency in the lysosomal enzyme acid α-glucosidase (GAA) that leads to accumulation of glycogen in the lysosomes, mainly seen in skeletal and cardiac muscles.

We report the safety and efficacy results of in utero enzyme-replacement therapy (ERT) in a fetus with CRIM (cross-reactive immunologic material)–negative infantile-onset Pompe’s disease.

DelveInsight's Pompe Disease pipeline report depicts a robust space with 15+ active players working to develop 20+ pipeline ...

There are ongoing efforts to improve the diagnosis, management, and overall quality of life for individuals with Pompe disease in India. (Image Credit: Freepik) With limited treatment options ...

After a nearly year-long delay pegged to COVID-19 travel restrictions, the U.S. FDA has approved Amicus Therapeutics Inc.’s Pompe disease drug, introducing competition for Sanofi SA’s standard-of-care ...