Enzyme Replacement Therapy (ERT) on Heart Function Changes the Outcome in Patients with Infantile-Onset Pompe Disease: A Familial History

• मुख्य लेखकों: Marco Lecis (लेखक), Katia Rossi (लेखक), Maria Elena Guerzoni (लेखक), Ilaria Mariotti (लेखक), Lorenzo Iughetti (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Hindawi Limited, 2023-01-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

Background. Lysosomal acid alpha-glucosidase (GAA) deficiency, also known as Pompe disease, is an autosomal recessive disorder that leads to the accumulation of glycogen in lysosomes and cytoplasm, resulting in tissue destruction. Infantile-onset GAA deficiency is characterized by cardiomyopathy and...