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article · ˜The œItalian Journal of Pediatrics/Italian journal of pediatrics

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

20251 citationOpen accessKafr el-Sheikh University

Abstract

Pompe disease has various clinical presentations and results in significant CMR findings, which can be attributed to different genetic mutations. Early initiation of enzyme replacement therapy in infantile-onset Pompe disease is important to maximize its benefits.

Research topics

  • Lysosomal Storage Disorders Research
  • Trypanosoma species research and implications
  • Studies on Chitinases and Chitosanases

Sustainable Development Goals

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DOI: 10.1186/s13052-025-01837-8

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