Clinical and Genetic Aspects of Pompe Disease: A Review of Current Knowledge

• Main Authors: Agata Konopka (Author), Milena Sitkiewicz (Author), Zuzanna Szczepaniak (Author), Natalia Wdowiak (Author), Kinga Adamska (Author)
• Format: Book
• Published: Nicolaus Copernicus University in Toruń, 2024-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract: Introduction:  Pompe disease is classified as a metabolic myopathy and is a glycogen storage disorder inherited in an autosomal recessive manner due to a mutation in the gene encoding the enzyme α-glucosidase. There are two main forms: infantile and late-onset. The disease progresses chron...