POMPE DISEASE: SYMPTOMS, DIAGNOSIS, AND THE LATEST IN DRUG DEVELOPMENT

Pompe Disease: Symptoms, Diagnosis, and the Latest in Drug Development Pompe disease, or Glycogen Storage Disease Type II, is a rare inherited condition caused by a deficiency in the enzyme acid alpha-glucosidase (GAA). This enzyme is essential for converting glycogen into glucose, and its absence leads to the accumulation of glycogen in cells,

Pompe Disease Care in Eastern Europe: Challenges and Potential Solutions Pompe disease, a rare genetic disorder caused by a deficiency in the enzyme acid alpha-glucosidase (GAA), presents distinct challenges in diagnosis, treatment, and research, particularly in Eastern Europe. The disease results in severe muscle weakness, respiratory problems,