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

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

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...

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Bibliographic Details
Main Authors:	Marco Lecis, Katia Rossi, Maria Elena Guerzoni, Ilaria Mariotti, Lorenzo Iughetti
Format:	Article
Language:	English
Published:	Hindawi Limited 2023-01-01
Series:	Case Reports in Pediatrics
Online Access:	http://dx.doi.org/10.1155/2023/8470341

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