Article
Adult type I Gaucher disease with splenectomy caused by a compound heterozygous GBA1 mutation in a Chinese patient: a case report.
Annals of hematology - 1 May 2024
Zhang Jian-Hui, Chen Hui, Ruan Dan-Dan, Chen Ying, Zhang Li, Gao Mei-Zhu, Chen Qian, Yu Hong-Ping, Wu Jia-Yi, Lin Xin-Fu, Fang Zhu-Ting, Zheng Xiao-Ling, Luo Jie-Wei, Liao Li-Sheng, Li Hong
Abstract excerpt
Gaucher disease (GD) is an autosomal recessive ailment resulting from glucocerebrosidase deficiency caused by a mutation in the GBA1 gene, leading to multi-organ problems in the liver, spleen, and bone marrow. In China, GD is extremely uncommon and has a lower incidence rate than worldwide. In this study, we report the case of an adult male with an enlarged spleen for 13 years who presented with abdominal...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.