Cori Disease (GSD3): Versionshistorik

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12. september 2026

  • nuværendeforrige 03:1412. sep. 2026, 03:14 196.51.103.245 diskussion 5.396 bytes +5.396 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..."