Clinical and genetic analyses of 17 Chinese patients with glycogen storage disease type IXc
This study expanded the clinical and variant spectrums of GSD IXc. Chit might be used as a biomarker for monitoring the treatment. Differential response to UCCS therapy based on variant type suggest a genotype-phenotype correlation.
Authors
- Kaichuang Zhang
- Taozi Du (ORCID: https://orcid.org/0000-0002-8681-0762)
- Manqing Sun
- Wenjuan Qiu (ORCID: https://orcid.org/0000-0002-8145-181X)
- Chengkai Sun
- LuLu Jiang
- Yu Sun
- Lili Liang
- Yi Yang
- Yu Xia
- Ruifang Wang
- Bing Xiao
- Yuning Sun
Institutions
- XinHua Hospital (CN)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-12-25
- DOI
- https://doi.org/10.1186/s13023-025-04178-1
- Primary Topic
- Glycogen Storage Diseases and Myoclonus
- Type
- article
- Field-Weighted Citation Impact
- 0.00