Two delayed-diagnosis case reports of long-lasting thrombocytopenia with splenomegaly
Herein, we report 2 patients with a delayed diagnosis of GD to increase awareness and improve education regarding rare diseases. However, noninvasive β-glucocerebrosidase activity or GBA gene testing had not been done before bone marrow aspiration, which are the noninvasive and reliable tests that indicate the diagnosis of GD.
Authors
- Yuni Xu
- Bojin Chen (ORCID: https://orcid.org/0009-0009-0549-1551)
- Feng Wang
- Jinlin Liu (ORCID: https://orcid.org/0000-0003-0502-4813)
- Wenchu Dai
Institutions
- Ningbo University (CN)
- Shenzhen University (CN)
- Southern Medical University Shenzhen Hospital (CN)
- Wenzhou City People's Hospital (CN)
- Hainan Medical University (CN)
Publication Details
- Journal
- Medicine
- Published
- 2024-08-23
- DOI
- https://doi.org/10.1097/md.0000000000039354
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00