Clinical manifestations in Egyptian Pompe disease patients: Molecular variability and enzyme replacement therapy (ERT) outcomes

Clinical manifestations in Egyptian Pompe disease patients: Molecular variability and enzyme replacement therapy (ERT) outcomes

Abstract Background Pompe disease is a rare genetic disorder caused by a deficiency of the enzyme acid alpha-glucosidase. This condition leads to muscle weakness, respiratory problems, and heart abnormalities in affected individuals. Methods The aim of the study is to share our experience through cr...

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Bibliographic Details
Main Authors: Mohamed Abdelghafar Hussein, Heba ElTaher, Ranim Mahmoud, Donia Sobh, Mohammad Al-Haggar
Format: Article
Language:English
Published: BMC 2025-01-01
Series:Italian Journal of Pediatrics
Subjects:
Pompe disease
Genotypes
Cardiac magnetic resonance imaging (CMR)
ERT
Online Access:https://doi.org/10.1186/s13052-025-01837-8
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