Clinical and genetic characterization of congenital disorders of glycosylation in 20 Chinese patients
Peiwei Zhao, Li Tan, Qingjie Meng, Lei Zhang, Yufeng Huang, Xiankai Zhang, Yanqiu Hu, Shiqiong Zhou, Xuelian He · 2025
Read Clinical and genetic characterization of congenital disorders of glycosylation in 20 Chinese patients by Peiwei Zhao, Li Tan, Qingjie Meng, Lei Zhang, Yufeng Huang, Xiankai Zhang, Yanqiu Hu, Shiqiong Zhou, Xuelian He (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-12729167.txt.
Description
Peiwei Zhao and co-authors describe the gene variants and clinical traits of 20 Chinese patients with congenital disorders of glycosylation. Published in 2025, the paper covers a family of rare metabolic diseases where the tagging of proteins and fats with sugars goes wrong. Signs vary widely, even within one subtype.
Whole exome sequencing, backed by other checks, found 28 distinct variants across many genes. Eleven of them had not been reported before. Three genes each accounted for three patients. The team traced links between where a variant sits in a gene and how severe the illness is. One gene's variants at one end caused a muscle related syndrome, while variants at the other end caused a different form.
Catalog record
| CREATOR | Peiwei Zhao, Li Tan, Qingjie Meng, Lei Zhang, Yufeng Huang, Xiankai Zhang, Yanqiu Hu, Shiqiong Zhou, Xuelian He |
|---|---|
| YEAR | 2025 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 45 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |