Article
[Genetic characteristics and clinical analysis of 20 patients with Gaucher's disease].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi - 14 Jan 2024
Zhang T B, Wen X L, Zhang X L, Yan J R, Hao G P, Yang L H, Zhang R J
Abstract excerpt
Gaucher Disease (GD) is an autosomal recessive lysosomal storage disorder characterized by high heterogeneity. This study aimed to further understand the correlation between clinical phenotypes and genotypes in GD patients through a retrospective analysis of 20 cases in Shanxi Bethune Hospital, including their clinical manifestations, laboratory tests, enzyme studies, and genetic results. Among the 20 GD...
Topics
- Humans
- Young Adult
- Adult
- Gaucher Disease
- Retrospective Studies
- Phenotype
- Genotype
- Mutation