Brugerbidrag for 196.51.103.245

12. september 2026

• 03:1412. sep. 2026, 03:14 forskel hist +5.396 N Cori Disease (GSD3) Oprettede siden med "<br>GSD3 is an inherited disorder that causes a buildup of glycogen in certain organs and tissues - especially in the liver and muscles. It is caused by mutations in the AGL gene leading to a deficiency in the debrancher enzyme, key in the breakdown of glycogen. It is inherited in an autosomal recessive manner. Symptoms typically present in infancy, but may only occur in adulthood. Children are often diagnosed because they have been noticed to have a swollen abdomen du..." nuværende