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

• मुख्य लेखकों: Agata Konopka (लेखक), Milena Sitkiewicz (लेखक), Zuzanna Szczepaniak (लेखक), Natalia Wdowiak (लेखक), Kinga Adamska (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Nicolaus Copernicus University in Toruń, 2024-08-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...