Pompe Disease (A Rare Metabolic Disease) in Basrah, the South of Iraq
Background: Pompe disease is a progressive, multisystemic, debilitating, often fatal neuromuscular disease caused by a pathogenic variant in the acid α-glucosidase gene leading to GAA enzyme deficiency and lysosomal glycogen accumulation. Objectives: This study aimed to determine the prevalence of e...
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| Principais autores: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wolters Kluwer Medknow Publications
2025-07-01
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| Colecção: | Medical Journal of Babylon |
| Assuntos: | |
| Acesso em linha: | https://doi.org/10.4103/MJBL.MJBL_92_24 |
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