AIMC Topic: Glycogen Storage Disease Type II
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Highlights of Precision Medicine, Genetics, Epigenetics and Artificial Intelligence in Pompe Disease.
International journal of molecular sciences
Jan 17, 2025
Pompe disease is a neuromuscular disorder caused by a deficiency of the enzyme acid alpha-glucosidase (), which leads to lysosomal glycogen accumulation and progressive development of muscle weakness. Two distinct isoforms have been identified. In th...
Analyzing immune cell infiltrates in skeletal muscle of infantile-onset Pompe disease using bioinformatics and machine learning.
Scientific reports
Nov 11, 2024
Pompe disease, a severe lysosomal storage disorder, is marked by heart problems, muscle weakness, and respiratory difficulties. This study aimed to identify novel markers for infantile-onset Pompe disease by analyzing key genes and immune cells infil...
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