Infantile-onset Pompe disease (the first case diagnosed in Voronezh)
Pompe disease (PD), or glycogen storage disease type II, is a rare autosomal recessive lysosomal disease caused by glycogen storage in the myocardium, skeletal muscles, and liver. PD, as an orphan disease with a very low prevalence rate, shows a marked clinical polymorphism, making its early diagnos...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
ABV-press
2015-02-01
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| Series: | Нервно-мышечные болезни |
| Subjects: | |
| Online Access: | https://nmb.abvpress.ru/jour/article/view/58 |
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