Successful pregnancy outcome in patient with Pompe disease despite discontinuation of enzyme replacement therapy
Background: Pompe disease (PD), is an autosomal recessive metabolic disorder caused by mutations in the acid alpha-glucosidase (GAA) gene, resulting in a deficiency of the same enzyme and glycogen buildup in tissues. Late onset PD (LOPD) is characterized by muscle illness, accompanied by diaphragmat...
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SMC MEDIA SRL
2025-05-01
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| Series: | European Journal of Case Reports in Internal Medicine |
| Subjects: | |
| Online Access: | https://www.ejcrim.com/index.php/EJCRIM/article/view/5456 |
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