Clinical and Laboratory Characteristics of Gaucher Disease Caused by Complex Heterozygous Mutation
The results show that a heterozygous complex mutation of R496H and L444P in the GBA gene causes the development of GD1. Clinical, enzyme activity-based assays, biological markers, and genetic analysis can significantly improve disease diagnosis and are important for early intervention and GD treatment.
Authors
- Min Shi (ORCID: https://orcid.org/0000-0001-9655-7556)
- Mei Liu (ORCID: https://orcid.org/0000-0003-1156-2722)
- Xiaofei Li (ORCID: https://orcid.org/0000-0001-7661-0436)
- Youguang Guo (ORCID: https://orcid.org/0000-0001-6182-0684)
- Xin Wei (ORCID: https://orcid.org/0000-0002-9832-2176)
- Songyun Zhang
- Ming Gao (ORCID: https://orcid.org/0000-0003-0304-8635)
- Rui Zhang (ORCID: https://orcid.org/0000-0001-8449-7429)
- Zhongli Gao (ORCID: https://orcid.org/0000-0003-3848-7830)
Publication Details
- Journal
- Clinical Laboratory
- Published
- 2025-01-01
- DOI
- https://doi.org/10.7754/clin.lab.2024.240937
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00