Characteristics of clinical manifestations and molecular genetics of inherited hyperhomocysteinemia in children and adolescents: a single center experience from China
Elevated tHcy is an important biomarker for inherited HHcy. Genetic testing is crucial for precise diagnosis, therapy initiation, and genetic counseling. Two novel pathogenic variants were identified, enriching the variant spectrum for inherited HHcy.
Authors
- Rui Qu
- Yang Zhao (ORCID: https://orcid.org/0000-0002-6011-5948)
- Yali Zhu (ORCID: https://orcid.org/0000-0003-1375-7750)
- Xiangju Qu
- Aimin Han (ORCID: https://orcid.org/0000-0001-9142-800X)
Institutions
- Jiangsu University (CN)
- Xuzhou University of Technology (CN)
- Xuzhou Medical College (CN)
- Xuzhou Cancer Hospital (CN)
Publication Details
- Journal
- Frontiers in Neurology
- Published
- 2025-09-09
- DOI
- https://doi.org/10.3389/fneur.2025.1588273
- Primary Topic
- Folate and B Vitamins Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China
- Xuzhou Medical University