Clinical and neuroradiologic spectrum of glutaric acidemia type 1 in children: insights from a retrospective cohort in Guangdong Province, China
This study underscores the need for heightened awareness of GA-1 among clinicians and radiologists, characterizes its MRI signature, and expands the GCDH mutation spectrum with five novel variants, thereby offering valuable guidance for imaging-based diagnosis and genetic counselling.
Authors
- Xuntao Yin (ORCID: https://orcid.org/0000-0002-8228-6908)
- Yu Wu
- Liguang Fang
- Hongsheng Liu
- Rui Wang
- Yaxian Cao
- Yan Zhou
- Shuyi Liu
- Haige Zheng
Institutions
- Third Affiliated Hospital of Southern Medical University (CN)
- First Affiliated Hospital of Jinan University (CN)
- Guangzhou Medical University (CN)
Publication Details
- Journal
- Quantitative Imaging in Medicine and Surgery
- Published
- 2026-01-21
- DOI
- https://doi.org/10.21037/qims-2025-693
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00