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...

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Detalles Bibliográficos
Autores principales: Zhao, Yuying, Wang, Zhaoxia, Lu, Jiahong, Gu, Xuefan, Huang, Yonglan, Qiu, Zhengqing, Wei, Yanping, Yan, Chuanzhu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
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

Internet

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

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