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...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Orphanet J Rare Dis
Hlavní autoři: Zhao, Yuying, Wang, Zhaoxia, Lu, Jiahong, Gu, Xuefan, Huang, Yonglan, Qiu, Zhengqing, Wei, Yanping, Yan, Chuanzhu
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2019
Témata:
Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6448270/
https://ncbi.nlm.nih.gov/pubmed/30943998
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1054-0
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky