Late-onset Pompe disease: preliminary results of enzyme replacement therapy
Pompe disease is an orphan hereditary accumulation disease associated with a deficiency of the lysosomal enzyme alglucosidase alpha. Manifestations of the disease are associated with pathological deposition of glycogen in body tissues as a result of GAA gene mutation and subsequent reduction in the...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
ABV-press
2019-07-01
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| Series: | Nervno-Myšečnye Bolezni |
| Subjects: | |
| Online Access: | https://nmb.abvpress.ru/jour/article/view/326 |