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

• 主要な著者: Agata Konopka (著者), Milena Sitkiewicz (著者), Zuzanna Szczepaniak (著者), Natalia Wdowiak (著者), Kinga Adamska (著者)
• フォーマット: 図書
• 出版事項: Nicolaus Copernicus University in Toruń, 2024-08-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: 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...