Characteristics of Pompe disease in China: a report from the Pompe registry
Abstract Background Pompe disease is a rare, progressive, autosomal recessive lysosomal storage disorder caused by mutations in the acid α-glucosidase gene. This is the first report of Chinese patients from the global Pompe Registry. Chinese patients enrolled in the Registry (ClinicalTrials.gov, NCT...
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| Hlavní autoři: | , , , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
BMC
2019-04-01
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| Edice: | Orphanet Journal of Rare Diseases |
| Témata: | |
| On-line přístup: | http://link.springer.com/article/10.1186/s13023-019-1054-0 |
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