Infantile-onset pompe disease: a case report emphasizing the role of genetic counseling and prenatal testing
Abstract Background Pompe disease, classified as glycogen storage disease type II, arises from a deficiency in the acid alpha-glucosidase (GAA) enzyme, leading to glycogen accumulation in multiple tissues. The unique correlation between genotype and enzyme activity is a key feature. This case highli...
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| Формат: | Книга |
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BMC,
2024-03-01T00:00:00Z.
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