POMPE DISEASE: FROM PATHOPHYSIOLOGY TO THERAPY AND BACK AGAIN

Pompe disease: from pathophysiology to therapy and back again

Pompe disease is a Wigs lysosomal storage disorder in which acid alpha-glucosidase is deficient or absent.Deficiency of this lysosomal enzyme results in progressive expansion of glycogen-filled lysosomes in multiple tissues, with cardiac and skeletal muscle being the most severely affected.The clinical spectrum ranges from fatal hypertrophic cardio

read more