Pompe disease is a rare, inherited lysosomal storage disorder caused by mutations in the GAA gene, leading to deficient acid alpha-glucosidase (GAA) enzyme activity. This results in excessive glycogen accumulation in muscle cells, causing progressive weakness and respiratory complications. Over the years, enzyme replacement therapy (ERT) has been the standard of care, but emerging...

  Pompe disease is a rare, inherited disorder caused by the deficiency of an enzyme called acid alpha-glucosidase (GAA), which is essential for breaking down glycogen in the body. This results in the accumulation of glycogen in various tissues, particularly the muscles, leading to progressive muscle weakness, respiratory difficulties, and in severe cases, heart failure. While there have...

Short Bowel Syndrome (SBS) is a rare yet severe gastrointestinal disorder that occurs when a significant portion of the small intestine is removed or becomes dysfunctional, leading to serious nutrient absorption issues. Managing SBS often requires specialized interventions, including nutritional support, pharmaceutical treatments, and, in advanced cases, surgical procedures like intestinal...

  Neuroendocrine tumors (NETs) are a rare and diverse group of tumors that originate from neuroendocrine cells, which are responsible for both hormone production and neurotransmission. These tumors can occur in various organs, including the lungs, pancreas, and gastrointestinal tract. As research continues to evolve, there is a growing focus on the development of effective treatments for...