Phenotypic and genetic characterization of children with Wilson Disease from Northeast China
Most children with WD are asymptomatic, which makes early diagnosis of WD difficult. Therefore, clinical and laboratory characteristics as well as genetic testing are essential. p.R778L is the most frequent variant of ATP7B in China and may play an important role in lowering serum ceruloplasmin levels.
Authors
- Tianhe Zhang (ORCID: https://orcid.org/0000-0003-3863-8803)
- Wenliang Song (ORCID: https://orcid.org/0000-0003-2389-7204)
- Zhi-Qin Mao
Institutions
- China Medical University (CN)
Publication Details
- Journal
- BMC Pediatrics
- Published
- 2024-09-12
- DOI
- https://doi.org/10.1186/s12887-024-05045-x
- Citations
- 3
- Primary Topic
- Trace Elements in Health
- Type
- article
- Field-Weighted Citation Impact
- 0.93