Laboratory studies and Pompe disease: from suspicion to therapy monitoring
Pompe disease (PD) is a rare, progressive, commonly fatal inherited autosomal recessive disease that is difficult to diagnose due to its obvious clinical heterogeneity and low awareness among physicians. Access to the laboratory diagnosis of rare diseases increases every year. In the past several ye...
| Main Authors: | , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
ABV-press
2016-03-01
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| Series: | Nervno-Myšečnye Bolezni |
| Subjects: | |
| Online Access: | https://nmb.abvpress.ru/jour/article/view/138 |