Rare Diseases in Neurology — Caring for a Patient with Pompe’s Disease
Introduction. Pompe disease, a severe metabolic myopathy, is caused by mutations in the gene coding for acid alpha-glucosidase (GAA), what lead to intralysosomal accumulation of glycogen in all tissues, most notably in skeletal muscles. Pompe disease was the first documented lysosomal storage diseas...
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| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Państwowa Akademia Nauk Stosowanych we Włocławku
2019-06-01
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| Series: | Pielęgniarstwo Neurologiczne i Neurochirurgiczne |
| Subjects: | |
| Online Access: | https://apcz.umk.pl/PNIN/article/view/38040 |
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