Clinical and genetic analyses of 17 Chinese patients with glycogen storage disease type IXc
Chengkai Sun, Taozi Du, Yu Xia, LuLu Jiang, Manqing Sun, Lili Liang, Kaichuang Zhang, Yi Yang, Yuning Sun, Ruifang Wang, Yu Sun, Bing Xiao, Wenjuan Qiu · 2025
Read Clinical and genetic analyses of 17 Chinese patients with glycogen storage disease type IXc by Chengkai Sun, Taozi Du, Yu Xia, LuLu Jiang, Manqing Sun, Lili Liang, Kaichuang Zhang, Yi Yang, Yuning Sun, Ruifang Wang, Yu Sun, Bing Xiao, Wenjuan Qiu (2025) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-12849681.txt.
Description
Chengkai Sun and co-authors report on seventeen Chinese patients with an ultra-rare liver disorder of sugar storage, in this 2025 study. The disorder, glycogen storage disease type IXc, blocks the liver from breaking down its stored sugar. A faulty gene for one part of the breaking enzyme is the cause. With so few cases known, each well-documented group adds real knowledge.
The patients were mostly children, with one adult, and slightly more girls than boys. The team pulled their records for growth, complications, blood tests, gene results, treatment, and follow-up. Patterns across the group can show which gene changes bring harsher disease and which treatments help most. For families facing a diagnosis with almost no literature, such a series is a guide and a comfort.
Catalog record
| CREATOR | Chengkai Sun, Taozi Du, Yu Xia, LuLu Jiang, Manqing Sun, Lili Liang, Kaichuang Zhang, Yi Yang, Yuning Sun, Ruifang Wang, Yu Sun, Bing Xiao, Wenjuan Qiu |
|---|---|
| YEAR | 2025 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 37 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |