Cargando…
Characteristics of Pompe disease in China: a report from the Pompe registry
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, NCT00231400...
| Autores principales: | , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2019
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6448270/ https://www.ncbi.nlm.nih.gov/pubmed/30943998 http://dx.doi.org/10.1186/s13023-019-1054-0 |