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Overview of Patients With Gaucher Disease From Iran Publisher



Zamanfar D ; Rostami P ; Rostampour N
Authors

Source: Gaucher Disease: An Updated Guide to Diagnosis and Management and patients presentation Published:2025


Abstract

This chapter reviews previous content by introducing several patients with GD, all from Iran and treated by pediatric endocrinologists in different cities. Patients presenting with different issues, like anemia, thrombocytopenia, liver enlargement, and bone pain, underwent several tests, including liver and bone marrow biopsies. They were ultimately diagnosed with GD through genetic testing. In contrast, some individuals were diagnosed with GD incidentally while being assessed for other health issues. © 2025 The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Nature Singapore Pte Ltd.